المؤلفون: Lisewski, AM, Quiros, JP, Mittal, M, Putluri, N, Sreekumar, A, Haeggstrom, JZ, Lichtarge, O

المصدر: International journal for parasitology. Drugs and drug resistance. 8(1):31-35

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137926986

المؤلفون: Reš I, Mihalek I, Lichtarge O

المصدر: BMC Bioinformatics, Vol 8, Iss 1, p 488 (2007)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2105/8/488; https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/15d994b3c3054b29b1c59345d57ec3ca

المؤلفون: Lord, J., Oquendo, C.J., Wai, H.A., Douglas, A.G.L., Bunyan, D.J., Wang, Y., Hu, Z., Zeng, Z., Danis, D., Katsonis, P., Williams, A., Lichtarge, O., Chang, Y., Bagnall, R.D., Mount, S.M., Matthiasardottir, B., Lin, C., Hansen, T.V.O., Leman, R., Martins, A., Houdayer, C., Krieger, S., Bakolitsa, C., Peng, Y., Kamandula, A., Radivojac, P., Baralle, D.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/208822/1/s00439-023-02624-3.pdf; Lord, J. orcid.org/0000-0002-0539-9343 , Oquendo, C.J., Wai, H.A. et al. (24 more authors) (2024) Predicting the impact of rare variants on RNA splicing in CAGI6. Human Genetics. ISSN 0340-6717

الاتاحة: https://eprints.whiterose.ac.uk/208822/
https://eprints.whiterose.ac.uk/208822/1/s00439-023-02624-3.pdf
https://doi.org/10.1007/s00439-023-02624-3

المؤلفون: Stenton S. L., O'Leary M. C., Lemire G., VanNoy G. E., DiTroia S., Ganesh V. S., Groopman E., O'Heir E., Mangilog B., Osei-Owusu I., Pais L. S., Serrano J., Singer-Berk M., Weisburd B., Wilson M. W., Austin-Tse C., Abdelhakim M., Althagafi A., Babbi G., Bellazzi R., Bovo S., Carta M. G., Casadio R., Coenen P. -J., De Paoli F., Floris M., Gajapathy M., Hoehndorf R., Jacobsen J. O. B., Joseph T., Kamandula A., Katsonis P., Kint C., Lichtarge O., Limongelli I., Lu Y., Magni P., Mamidi T. K. K., Martelli P. L., Mulargia M., Nicora G., Nykamp K., Pejaver V., Peng Y., Pham T. H. C., Podda M. S., Rao A., Rizzo E., Saipradeep V. G., Savojardo C., Schols P., Shen Y., Sivadasan N., Smedley D., Soru D., Srinivasan R., Sun Y., Sunderam U., Tan W., Tiwari N., Wang X., Wang Y., Williams A., Worthey E. A., Yin R., You Y., Zeiberg D., Zucca S., Bakolitsa C., Brenner S. E., Fullerton S. M., Radivojac P., Rehm H. L., O'Donnell-Luria A.

المساهمون: Stenton, S. L., O'Leary, M. C., Lemire, G., Vannoy, G. E., Ditroia, S., Ganesh, V. S., Groopman, E., O'Heir, E., Mangilog, B., Osei-Owusu, I., Pais, L. S., Serrano, J., Singer-Berk, M., Weisburd, B., Wilson, M. W., Austin-Tse, C., Abdelhakim, M., Althagafi, A., Babbi, G., Bellazzi, R., Bovo, S., Carta, M. G., Casadio, R., Coenen, P. -J., De Paoli, F., Floris, M., Gajapathy, M., Hoehndorf, R., Jacobsen, J. O. B., Joseph, T., Kamandula, A., Katsonis, P., Kint, C., Lichtarge, O., Limongelli, I., Lu, Y., Magni, P., Mamidi, T. K. K., Martelli, P. L., Mulargia, M., Nicora, G., Nykamp, K., Pejaver, V., Peng, Y., Pham, T. H. C., Podda, M. S., Rao, A., Rizzo, E., Saipradeep, V. G., Savojardo, C., Schols, P., Shen, Y., Sivadasan, N., Smedley, D., Soru, D., Srinivasan, R., Sun, Y., Sunderam, U., Tan, W., Tiwari, N., Wang, X., Wang, Y., Williams, A., Worthey, E. A., Yin, R., You, Y., Zeiberg, D., Zucca, S., Bakolitsa, C., Brenner, S. E., Fullerton, S. M., Radivojac, P., Rehm, H. L., O'Donnell-Luria, A.

مصطلحات موضوعية: Best practice, Genome interpretation, Genome sequencing, Rare disease, Variant prioritization

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38685113; volume:18; issue:1; journal:HUMAN GENOMICS; https://hdl.handle.net/11571/1498559; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191869582; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00604-w

الاتاحة: https://hdl.handle.net/11571/1498559
https://doi.org/10.1186/s40246-024-00604-w
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00604-w

المؤلفون: Donehower, LA, Soussi, T, Korkut, A, Liu, YX, Schultz, A, Cardenas, M, Li, XB, Babur, O, Hsu, TK, Lichtarge, O, Weinstein, JN, Akbani, R, Wheeler, DA

المصدر: Cell reports. 28(11):3010-3010

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141812641

المؤلفون: Jain S., Bakolitsa C., Brenner S. E., Radivojac P., Moult J., Repo S., Hoskins R. A., Andreoletti G., Barsky D., Chellapan A., Chu H., Dabbiru N., Kollipara N. K., Ly M., Neumann A. J., Pal L. R., Odell E., Pandey G., Peters-Petrulewicz R. C., Srinivasan R., Yee S. F., Yeleswarapu S. J., Zuhl M., Adebali O., Patra A., Beer M. A., Hosur R., Peng J., Bernard B. M., Berry M., Dong S., Boyle A. P., Adhikari A., Chen J., Hu Z., Wang R., Wang Y., Miller M., Bromberg Y., Turina P., Capriotti E., Han J. J., Ozturk K., Carter H., Babbi G., Bovo S., Di Lena P., Martelli P. L., Savojardo C., Casadio R., Cline M. S., De Baets G., Bonache S., Diez O., Gutierrez-Enriquez S., Fernandez A., Montalban G., Ootes L., Ozkan S., Padilla N., Riera C., De la Cruz X., Diekhans M., Huwe P. J., Wei Q., Xu Q., Dunbrack R. L., Gotea V., Elnitski L., Margolin G., Fariselli P., Kulakovskiy I. V., Makeev V. J., Penzar D. D., Vorontsov I. E., Favorov A. V., Forman J. R., Hasenahuer M., Fornasari M. S., Parisi G., Avsec Z., Celik M. H., Nguyen T. Y. D., Gagneur J., Shi F. -Y., Edwards M. D., Guo Y., Tian K., Zeng H., Gifford D. K., Goke J., Zaucha J., Gough J., Ritchie G. R. S., Frankish A., Mudge J. M., Harrow J., Young E. L., Yu Y., Huff C. D., Murakami K., Nagai Y., Imanishi T., Mungall C. J., Jacobsen J. O. B., Kim D., Jeong C. -S., Jones D. T., Li M. J., Guthrie V. B., Bhattacharya R., Chen Y. -C., Douville C., Fan J., Masica D., Niknafs N., Sengupta S., Tokheim C., Turner T. N., Yeo H. T. G., Karchin R., Shin S., Welch R., Keles S., Li Y., Kellis M., Corbi-Verge C., Strokach A. V., Kim P. M., Klein T. E., Mohan R., Sinnott-Armstrong N. A., Wainberg M., Kundaje A., Gonzaludo N., Mak A. C. Y., Chhibber A., Lam H. Y. K., Dahary D., Fishilevich S., Lancet D., Lee I., Bachman B., Katsonis P., Lua R. C., Wilson S. J., Lichtarge O., Bhat R. R., Sundaram L., Viswanath V., Bellazzi R., Nicora G., Rizzo E., Limongelli I., Mezlini A. M., Chang R., Kim S., Lai C., O'Connor R., Topper S., van den Akker J., Zhou A. Y., Zimmer A. D., Mishne G., Bergquist T. R., Breese M. R., Guerrero R. F., Jiang Y., Kiga N., Li B., Mort M., Pagel K. A., Pejaver V., Stamboulian M. H., Thusberg J., Mooney S. D., Teerakulkittipong N., Cao C., Kundu K., Yin Y., Yu C. -H., Kleyman M., Lin C. -F., Stackpole M., Mount S. M., Eraslan G., Mueller N. S., Naito T., Rao A. R., Azaria J. R., Brodie A., Ofran Y., Garg A., Pal D., Hawkins-Hooker A., Kenlay H., Reid J., Mucaki E. J., Rogan P. K., Schwarz J. M., Searls D. B., Lee G. R., Seok C., Kramer A., Shah S., Huang C. V., Kirsch J. F., Shatsky M., Cao Y., Chen H., Karimi M., Moronfoye O., Sun Y., Shen Y., Shigeta R., Ford C. T., Nodzak C., Uppal A., Shi X., Joseph T., Kotte S., Rana S., Rao A., Saipradeep V. G., Sivadasan N., Sunderam U., Stanke M., Su A., Adzhubey I., Jordan D. M., Sunyaev S., Rousseau F., Schymkowitz J., Van Durme J., Tavtigian S. V., Carraro M., Giollo M., Tosatto S. C. E., Adato O., Carmel L., Cohen N. E., Fenesh T., Holtzer T., Juven-Gershon T., Unger R., Niroula A., Olatubosun A., Valiaho J., Yang Y., Vihinen M., Wahl M. E., Chang B., Chong K. C., Hu I., Sun R., Wu W. K. K., Xia X., Zee B. C., Wang M. H., Wang M., Wu C., Lu Y., Chen K., Yates C. M., Kreimer A., Yan Z., Yosef N., Zhao H., Wei Z., Yao Z., Zhou F., Folkman L., Zhou Y., Daneshjou R., Altman R. B., Inoue F., Ahituv N., Arkin A. P., Lovisa F., Bonvini P., Bowdin S., Gianni S., Mantuano E., Minicozzi V., Novak L., Pasquo A., Pastore A., Petrosino M., Puglisi R., Toto A., Veneziano L., Chiaraluce R., Ball M. P., Bobe J. R., Church G. M., Consalvi V., Cooper D. N., Buckley B. A., Sheridan M. B., Cutting G. R., Scaini M. C., Cygan K. J., Fredericks A. M., Glidden D. T., Neil C., Rhine C. L., Fairbrother W. G., Alontaga A. Y., Fenton A. W., Matreyek K. A., Starita L. M., Fowler D. M., Loscher B. -S., Franke A., Adamson S. I., Graveley B. R., Gray J. W., Malloy M. J., Kane J. P., Kousi M., Katsanis N., Schubach M., Kircher M., Tang P. L. F., Kwok P. -Y., Lathrop R. H., Clark W. T., Yu G. K., LeBowitz J. H., Benedicenti F., Bettella E., Bigoni S., Cesca F., Mammi I., Marino-Buslje C., Milani D., Peron A., Polli R., Sartori S., Stanzial F., Toldo I., Turolla L., Aspromonte M. C., Bellini M., Leonardi E., Liu X., Marshall C., McCombie W. R., Elefanti L., Menin C., Meyn M. S., Murgia A., Nadeau K. C. Y., Neuhausen S. L., Nussbaum R. L., Pirooznia M., Potash J. B., Dimster-Denk D. F., Rine J. D., Sanford J. R., Snyder M., Cote A. G., Sun S., Verby M. W., Weile J., Roth F. P., Tewhey R., Sabeti P. C., Campagna J., Refaat M. M., Wojciak J., Grubb S., Schmitt N., Shendure J., Spurdle A. B., Stavropoulos D. J., Walton N. A., Zandi P. P., Ziv E., Burke W., Chen F., Carr L. R., Martinez S., Paik J., Harris-Wai J., Yarborough M., Fullerton S. M., Koenig B. A., McInnes G., Shigaki D., Chandonia J. -M., Furutsuki M., Kasak L., Yu C., Chen R., Friedberg I., Getz G. A., Cong Q., Kinch L. N., Zhang J., Grishin N. V., Voskanian A., Kann M. G., Tran E., Ioannidis N. M., Hunter J. M., Udani R., Cai B., Morgan A. A., Sokolov A., Stuart J. M., Minervini G., Monzon A. M., Batzoglou S., Butte A. J., Greenblatt M. S., Hart R. K., Hernandez R., Hubbard T. J. P., Kahn S., O'Donnell-Luria A., Ng P. C., Shon J., Veltman J., Zook J. M.

المساهمون: Jain, S., Bakolitsa, C., Brenner, S. E., Radivojac, P., Moult, J., Repo, S., Hoskins, R. A., Andreoletti, G., Barsky, D., Chellapan, A., Chu, H., Dabbiru, N., Kollipara, N. K., Ly, M., Neumann, A. J., Pal, L. R., Odell, E., Pandey, G., Peters-Petrulewicz, R. C., Srinivasan, R., Yee, S. F., Yeleswarapu, S. J., Zuhl, M., Adebali, O., Patra, A., Beer, M. A., Hosur, R., Peng, J., Bernard, B. M., Berry, M., Dong, S., Boyle, A. P., Adhikari, A., Chen, J., Hu, Z., Wang, R., Wang, Y., Miller, M., Bromberg, Y., Turina, P., Capriotti, E., Han, J. J., Ozturk, K., Carter, H., Babbi, G., Bovo, S., Di Lena, P., Martelli, P. L., Savojardo, C., Casadio, R., Cline, M. S., De Baets, G., Bonache, S., Diez, O., Gutierrez-Enriquez, S., Fernandez, A., Montalban, G., Ootes, L., Ozkan, S., Padilla, N., Riera, C., De la Cruz, X., Diekhans, M., Huwe, P. J., Wei, Q., Xu, Q., Dunbrack, R. L., Gotea, V., Elnitski, L., Margolin, G., Fariselli, P., Kulakovskiy, I. V., Makeev, V. J., Penzar, D. D., Vorontsov, I. E., Favorov, A. V., Forman, J. R., Hasenahuer, M., Fornasari, M. S., Parisi, G., Avsec, Z., Celik, M. H., Nguyen, T. Y. D., Gagneur, J., Shi, F. -Y., Edwards, M. D., Guo, Y., Tian, K., Zeng, H., Gifford, D. K., Goke, J., Zaucha, J., Gough, J., Ritchie, G. R. S., Frankish, A., Mudge, J. M., Harrow, J., Young, E. L., Yu, Y.

مصطلحات موضوعية: Variant detection, bioinformatics

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38389099; volume:25; issue:1; journal:GENOME BIOLOGY; https://hdl.handle.net/11571/1498598; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187866396; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-023-03113-6

الاتاحة: https://hdl.handle.net/11571/1498598
https://doi.org/10.1186/s13059-023-03113-6
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-023-03113-6

المؤلفون: Lisewski, A. M., Lichtarge, O.

مصطلحات موضوعية: Quantitative Biology - Biomolecules, Nonlinear Sciences - Adaptation and Self-Organizing Systems

URL الوصول: http://arxiv.org/abs/q-bio/0409029

المؤلفون: Carraro M., Monzon A. M., CHIRICOSTA, LUIGI, REGGIANI, FRANCESCO, Aspromonte M. C., Bellini M., Pagel K., Jiang Y., Radivojac P., Kundu K., Pal L. R., Yin Y., Limongelli I., Andreoletti G., Moult J., Wilson S. J., Katsonis P., Lichtarge O., Chen J., Wang Y., Hu Z., Brenner S. E., Ferrari C., Murgia A., Tosatto S. C. E., Leonardi E.

المساهمون: Carraro, M., Monzon, A. M., Chiricosta, Luigi, Reggiani, Francesco, Aspromonte, M. C., Bellini, M., Pagel, K., Jiang, Y., Radivojac, P., Kundu, K., Pal, L. R., Yin, Y., Limongelli, I., Andreoletti, G., Moult, J., Wilson, S. J., Katsonis, P., Lichtarge, O., Chen, J., Wang, Y., Hu, Z., Brenner, S. E., Ferrari, C., Murgia, A., Tosatto, S. C. E., Leonardi, E.

مصطلحات موضوعية: community challenge, critical assessment, genetic testing, phenotype prediction, variant interpretation

Relation: info:eu-repo/semantics/altIdentifier/pmid/31144778; info:eu-repo/semantics/altIdentifier/wos/WOS:000485994200015; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3307139; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068522592; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004

الاتاحة: http://hdl.handle.net/11577/3307139
https://doi.org/10.1002/humu.23823
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004

المؤلفون: Zhou N, Jiang Y, Bergquist TR, Lee AJ, Kacsoh BZ, Crocker AW, Lewis KA, Georghiou G, Nguyen HN, Hamid MN, Davis L, Dogan T, Atalay V, Rifaioglu AS, Dalkıran A, Cetin Atalay R, Zhang C, Hurto RL, Freddolino PL, Zhang Y, Bhat P, Supek F, Fernández JM, Gemovic B, Perovic VR, Davidović RS, Sumonja N, Veljkovic N, Asgari E, Mofrad MRK, Profiti G, Savojardo C, Martelli PL, Casadio R, Boecker F, Schoof H, Kahanda I, Thurlby N, McHardy AC, Renaux A, Saidi R, Gough J, Freitas AA, Antczak M, Fabris F, Wass MN, Hou J, Cheng J, Wang Z, Romero AE, Paccanaro A, Yang H, Goldberg T, Zhao C, Holm L, Törönen P, Medlar AJ, Zosa E, Borukhov I, Novikov I, Wilkins A, Lichtarge O, Chi PH, Tseng WC, Linial M, Rose PW, Dessimoz C, Vidulin V, Dzeroski S, Sillitoe I, Das S, Lees JG, Jones DT, Wan C, Cozzetto D, Fa R, Torres M, Warwick Vesztrocy A, Rodriguez JM, Tress ML, Frasca M, Notaro M, Grossi G, Petrini A, Re M, Valentini G, Mesiti M, Roche DB, Reeb J, Ritchie DW, Aridhi S, Alborzi SZ, Devignes MD, Koo DCE, Bonneau R, Gligorijević V, Barot M, Fang H, Toppo S, Lavezzo E, Falda M, Berselli M, Tosatto SCE, Carraro M, Piovesan D, Ur Rehman H, Mao Q, Zhang S, Vucetic S, Black GS, Jo D, Suh E, Dayton JB, Larsen DJ, Omdahl AR, McGuffin LJ, Brackenridge DA, Babbitt PC, Yunes JM, Fontana P, Zhang F, Zhu S, You R, Zhang Z, Dai S, Yao S, Tian W, Cao R, Chandler C, Amezola M, Johnson D, Chang JM, Liao WH, Liu YW, Pascarelli S, Frank Y, Hoehndorf R, Kulmanov M, Boudellioua I, Politano G, Di Carlo S, Benso A, Hakala K, Ginter F, Mehryary F, Kaewphan S, Björne J, Moen H, Tolvanen MEE, Salakoski T, Kihara D, Jain A, Šmuc T, Altenhoff A, Ben-Hur A, Rost B, Brenner SE, Orengo CA, Jeffery CJ, Bosco G, Hogan DA, Martin MJ, O'Donovan C, Mooney SD, Greene CS, Radivojac P, Friedberg I

المساهمون: Zhou, N, Jiang, Y, Bergquist, Tr, Lee, Aj, Kacsoh, Bz, Crocker, Aw, Lewis, Ka, Georghiou, G, Nguyen, Hn, Hamid, Mn, Davis, L, Dogan, T, Atalay, V, Rifaioglu, A, Dalkıran, A, Cetin Atalay, R, Zhang, C, Hurto, Rl, Freddolino, Pl, Zhang, Y, Bhat, P, Supek, F, Fernández, Jm, Gemovic, B, Perovic, Vr, Davidović, R, Sumonja, N, Veljkovic, N, Asgari, E, Mofrad, Mrk, Profiti, G, Savojardo, C, Martelli, Pl, Casadio, R, Boecker, F, Schoof, H, Kahanda, I, Thurlby, N, Mchardy, Ac, Renaux, A, Saidi, R, Gough, J, Freitas, Aa, Antczak, M, Fabris, F, Wass, Mn, Hou, J, Cheng, J, Wang, Z, Romero, Ae, Paccanaro, A, Yang, H, Goldberg, T, Zhao, C, Holm, L, Törönen, P, Medlar, Aj, Zosa, E, Borukhov, I, Novikov, I, Wilkins, A, Lichtarge, O, Chi, Ph, Tseng, Wc, Linial, M, Rose, Pw, Dessimoz, C, Vidulin, V, Dzeroski, S, Sillitoe, I, Das, S, Lees, Jg, Jones, Dt, Wan, C, Cozzetto, D, Fa, R, Torres, M, Warwick Vesztrocy, A, Rodriguez, Jm, Tress, Ml, Frasca, M, Notaro, M, Grossi, G, Petrini, A, Re, M, Valentini, G, Mesiti, M, Roche, Db, Reeb, J, Ritchie, Dw, Aridhi, S, Alborzi, Sz, Devignes, Md, Koo, Dce, Bonneau, R, Gligorijević, V, Barot, M, Fang, H, Toppo, S, Lavezzo, E

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31744546; info:eu-repo/semantics/altIdentifier/wos/WOS:000498615000001; journal:GENOME BIOLOGY; info:eu-repo/grantAgreement/EC/H2020/778247; http://hdl.handle.net/11577/3315952; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075272104

الاتاحة: http://hdl.handle.net/11577/3315952
https://doi.org/10.1186/s13059-019-1835-8

المؤلفون: Savojardo C., Petrosino M., Babbi G., Bovo S., Corbi-Verge C., Casadio R., Fariselli P., Folkman L., Garg A., Karimi M., Katsonis P., Kim P. M., Lichtarge O., Martelli P. L., Pasquo A., Pal D., Shen Y., Strokach A. V., Turina P., Zhou Y., Andreoletti G., Brenner S. E., Chiaraluce R., Consalvi V., Capriotti E.

المساهمون: Savojardo C., Petrosino M., Babbi G., Bovo S., Corbi-Verge C., Casadio R., Fariselli P., Folkman L., Garg A., Karimi M., Katsonis P., Kim P.M., Lichtarge O., Martelli P.L., Pasquo A., Pal D., Shen Y., Strokach A.V., Turina P., Zhou Y., Andreoletti G., Brenner S.E., Chiaraluce R., Consalvi V., Capriotti E.

مصطلحات موضوعية: free energy change, machine learning, protein folding, protein stability, single amino acid variant

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31209948; info:eu-repo/semantics/altIdentifier/wos/WOS:000485994200019; volume:40; issue:9; firstpage:1392; lastpage:1399; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11585/700369; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070517550

الاتاحة: http://hdl.handle.net/11585/700369
https://doi.org/10.1002/humu.23843
https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23843

المؤلفون: Zhou, N, Jiang, Y, Bergquist, TR, Lee, AJ, Kacsoh, BZ, Crocker, AW, Lewis, KA, Georghiou, G, Nguyen, HN, Hamid, MN, Davis, L, Dogan, T, Atalay, V, Rifaioglu, AS, Dalkıran, A, Cetin Atalay, R, Zhang, C, Hurto, RL, Freddolino, PL, Zhang, Y, Bhat, P, Supek, F, Fernández, JM, Gemovic, B, Perovic, VR, Davidović, RS, Sumonja, N, Veljkovic, N, Asgari, E, Mofrad, MRK, Profiti, G, Savojardo, C, Martelli, PL, Casadio, R, Boecker, F, Schoof, H, Kahanda, I, Thurlby, N, McHardy, AC, Renaux, A, Saidi, R, Gough, J, Freitas, AA, Antczak, M, Fabris, F, Wass, MN, Hou, J, Cheng, J, Wang, Z, Romero, AE, Paccanaro, A, Yang, H, Goldberg, T, Zhao, C, Holm, L, Törönen, P, Medlar, AJ, Zosa, E, Borukhov, I, Novikov, I, Wilkins, A, Lichtarge, O, Chi, P-H, Tseng, W-C, Linial, M, Rose, PW, Dessimoz, C, Vidulin, V, Dzeroski, S, Sillitoe, I, Das, S, Lees, JG, Jones, DT, Wan, C, Cozzetto, D, Fa, R, Torres, M, Warwick Vesztrocy, A, Rodriguez, JM, Tress, ML, Frasca, M, Notaro, M, Grossi, G, Petrini, A, Re, M, Valentini, G, Mesiti, M, Roche, DB, Reeb, J, Ritchie, DW, Aridhi, S, Alborzi, SZ, Devignes, M-D, Koo, DCE, Bonneau, R, Gligorijević, V, Barot, M, Fang, H, Toppo, S, Lavezzo, E, Falda, M, Berselli, M, Tosatto, SCE, Carraro, M, Piovesan, D, Ur Rehman, H, Mao, Q, Zhang, S, Vucetic, S, Black, GS, Jo, D, Suh, E, Dayton, JB, Larsen, DJ, Omdahl, AR, McGuffin, LJ, Brackenridge, DA, Babbitt, PC, Yunes, JM, Fontana, P, Zhang, F, Zhu, S, You, R, Zhang, Z, Dai, S, Yao, S, Tian, W, Cao, R, Chandler, C, Amezola, M, Johnson, D, Chang, J-M, Liao, W-H, Liu, Y-W, Pascarelli, S, Frank, Y, Hoehndorf, R, Kulmanov, M, Boudellioua, I, Politano, G, Di Carlo, S, Benso, A, Hakala, K, Ginter, F, Mehryary, F, Kaewphan, S, Björne, J, Moen, H, Tolvanen, MEE, Salakoski, T, Kihara, D, Jain, A, Šmuc, T, Altenhoff, A, Ben-Hur, A, Rost, B, Brenner, SE, Orengo, CA, Jeffery, CJ, Bosco, G, Hogan, DA, Martin, MJ, O'Donovan, C, Mooney, SD, Greene, CS, Radivojac, P, Friedberg, I

المصدر: Genome Biology , 20 (1) , Article 244. (2019)

مصطلحات موضوعية: Biofilm, Community challenge, Critical assessment, Long-term memory, Protein function prediction

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10086582/1/s13059-019-1835-8.pdf; https://discovery.ucl.ac.uk/id/eprint/10086582/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10086582/1/s13059-019-1835-8.pdf
https://discovery.ucl.ac.uk/id/eprint/10086582/

المؤلفون: Clark, WT, Kasak, L, Bakolitsa, C, Hu, Z, Andreoletti, G, Babbi, G, Bromberg, Y, Casadio, R, Dunbrack, R, Folkman, L, Ford, CT, Jones, D, Katsonis, P, Kundu, K, Lichtarge, O, Martelli, PL, Mooney, SD, Nodzak, C, Pal, LR, Ivojac, PRR, Savojardo, C, Shi, X, Zhou, Y, Uppal, A, Xu, Q, Yin, Y, Pejaver, V, Wang, M, Wei, L, Moult, J, Yu, GK, Brenner, SE, LeBowitz, JH

المصدر: Human Mutation , 40 (9) pp. 1519-1529. (2019)

مصطلحات موضوعية: CAGI, critical assessment, enzymatic activity, machine learning, Sanfilippo syndrome, variants of unknown significance, α‐N‐acetylglucosaminidase, NAGLU

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10082873/1/NAGLU_CAGI_032819.pdf; https://discovery.ucl.ac.uk/id/eprint/10082873/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10082873/1/NAGLU_CAGI_032819.pdf
https://discovery.ucl.ac.uk/id/eprint/10082873/

المؤلفون: Gennarino, VA, Palmer, EE, McDonell, LM, Wang, L, Adamski, CJ, Koire, A, See, L, Chen, CA, Schaaf, CP, Rosenfeld, JA, Panzer, JA, Moog, U, Hao, S, Bye, A, Kirk, EP, Stankiewicz, P, Breman, AM, McBride, A, Kandula, T, Dubbs, HA, Macintosh, R, Cardamone, M, Zhu, Y, Ying, K, Dias, KR, Cho, MT, Henderson, LB, Baskin, B, Morris, P, Tao, J, Cowley, MJ, Dinger, ME, Roscioli, T, Caluseriu, O, Suchowersky, O, Sachdev, RK, Lichtarge, O, Tang, J, Boycott, KM, Holder, JL, Zoghbi, HY, Palmer, Elizabeth

المصدر: urn:ISSN:0092-8674 ; urn:ISSN:1097-4172 ; Cell, 172, 5, 924-936.e11

مصطلحات موضوعية: 31 Biological Sciences, 3102 Bioinformatics and Computational Biology, 32 Biomedical and Clinical Sciences, 3105 Genetics, Brain Disorders, Neurodegenerative, Genetics, Neurosciences, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Age of Onset, Aged, 80 and over, Animals, Base Sequence, Child, Preschool, Developmental Disabilities, Evolution, Molecular, Female, Gene Deletion, Genetic Predisposition to Disease, HEK293 Cells, Haploinsufficiency

وصف الملف: application/pdf

Relation: http://purl.org/au-research/grants/nhmrc/APP1114963; http://hdl.handle.net/1959.4/unsworks_61598; https://doi.org/10.1016/j.cell.2018.02.006

الاتاحة: http://hdl.handle.net/1959.4/unsworks_61598
https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/download
https://doi.org/10.1016/j.cell.2018.02.006

المؤلفون: Huang K. -L., Mashl R. J., Wu Y., Ritter D. I., Wang J., Oh C., Paczkowska M., Reynolds S., Wyczalkowski M. A., Oak N., Scott A. D., Krassowski M., Cherniack A. D., Houlahan K. E., Jayasinghe R., Wang L. -B., Zhou D. C., Liu D., Cao S., Kim Y. W., Koire A., McMichael J. F., Hucthagowder V., Kim T. -B., Hahn A., Wang C., McLellan M. D., Al-Mulla F., Johnson K. J., Caesar-Johnson S. J., Demchok J. A., Felau I., Kasapi M., Ferguson M. L., Hutter C. M., Sofia H. J., Tarnuzzer R., Wang Z., Yang L., Zenklusen J. C., Zhang J. J., Chudamani S., Liu J., Lolla L., Naresh R., Pihl T., Sun Q., Wan Y., Cho J., DeFreitas T., Frazer S., Gehlenborg N., Getz G., Heiman D. I., Kim J., Lawrence M. S., Lin P., Meier S., Noble M. S., Saksena G., Voet D., Zhang H., Bernard B., Chambwe N., Dhankani V., Knijnenburg T., Kramer R., Leinonen K., Liu Y., Miller M., Shmulevich I., Thorsson V., Zhang W., Akbani R., Broom B. M., Hegde A. M., Ju Z., Kanchi R. S., Korkut A., Li J., Liang H., Ling S., Liu W., Lu Y., Mills G. B., Ng K. -S., Rao A., Ryan M., Weinstein J. N., Zhang J., Abeshouse A., Armenia J., Chakravarty D., Chatila W. K., de Bruijn I., Gao J., Gross B. E., Heins Z. J., Kundra R., La K., Ladanyi M., Luna A., Nissan M. G., Ochoa A., Phillips S. M., Reznik E., Sanchez-Vega F., Sander C., Schultz N., Sheridan R., Sumer S. O., Sun Y., Taylor B. S., Anur P., Peto M., Spellman P., Benz C., Stuart J. M., Wong C. K., Yau C., Hayes D. N., Parker J. S., Wilkerson M. D., Ally A., Balasundaram M., Bowlby R., Brooks D., Carlsen R., Chuah E., Dhalla N., Holt R., Jones S. J. M., Kasaian K., Lee D., Ma Y., Marra M. A., Mayo M., Moore R. A., Mungall A. J., Mungall K., Robertson A. G., Sadeghi S., Schein J. E., Sipahimalani P., Tam A., Thiessen N., Tse K., Wong T., Berger A. C., Beroukhim R., Cibulskis C., Gabriel S. B., Gao G. F., Ha G., Meyerson M., Schumacher S. E., Shih J., Kucherlapati M. H., Kucherlapati R. S., Baylin S., Cope L., Danilova L., Bootwalla M. S., Lai P. H., Maglinte D. T., Van Den Berg D. J., Weisenberger D. J., Auman J. T., Balu S., Bodenheimer T., Fan C., Hoadley K. A., Hoyle A. P., Jefferys S. R., Jones C. D., Meng S., Mieczkowski P. A., Mose L. E., Perou A. H., Perou C. M., Roach J., Shi Y., Simons J. V., Skelly T., Soloway M. G., Tan D., Veluvolu U., Fan H., Hinoue T., Laird P. W., Shen H., Zhou W., Bellair M., Chang K., Covington K., Creighton C. J., Dinh H., Doddapaneni H., Donehower L. A., Drummond J., Gibbs R. A., Glenn R., Hale W., Han Y., Hu J., Korchina V., Lee S., Lewis L., Li W., Liu X., Morgan M., Morton D., Muzny D., Santibanez J., Sheth M., Shinbrot E., Wang L., Wang M., Wheeler D. A., Xi L., Zhao F., Hess J., Appelbaum E. L., Bailey M., Cordes M. G., Ding L., Fronick C. C., Fulton L. A., Fulton R. S., Kandoth C., Mardis E. R., Miller C. A., Schmidt H. K., Wilson R. K., Crain D., Curley E., Gardner J., Lau K., Mallery D., Morris S., Paulauskis J., Penny R., Shelton C., Shelton T., Sherman M., Thompson E., Yena P., Bowen J., Gastier-Foster J. M., Gerken M., Leraas K. M., Lichtenberg T. M., Ramirez N. C., Wise L., Zmuda E., Corcoran N., Costello T., Hovens C., Carvalho A. L., de Carvalho A. C., Fregnani J. H., Longatto-Filho A., Reis R. M., Scapulatempo-Neto C., Silveira H. C. S., Vidal D. O., Burnette A., Eschbacher J., Hermes B., Noss A., Singh R., Anderson M. L., Castro P. D., Ittmann M., Huntsman D., Kohl B., Le X., Thorp R., Andry C., Duffy E. R., Lyadov V., Paklina O., Setdikova G., Shabunin A., Tavobilov M., McPherson C., Warnick R., Berkowitz R., Cramer D., Feltmate C., Horowitz N., Kibel A., Muto M., Raut C. P., Malykh A., Barnholtz-Sloan J. S., Barrett W., Devine K., Fulop J., Ostrom Q. T., Shimmel K., Wolinsky Y., Sloan A. E., De Rose A., Giuliante F., Goodman M., Karlan B. Y., Hagedorn C. H., Eckman J., Harr J., Myers J., Tucker K., Zach L. A., Deyarmin B., Hu H., Kvecher L., Larson C., Mural R. J., Somiari S., Vicha A., Zelinka T., Bennett J., Iacocca M., Rabeno B., Swanson P., Latour M., Lacombe L., Tetu B., Bergeron A., McGraw M., Staugaitis S. M., Chabot J., Hibshoosh H., Sepulveda A., Su T., Wang T., Potapova O., Voronina O., Desjardins L., Mariani O., Roman-Roman S., Sastre X., Stern M. -H., Cheng F., Signoretti S., Berchuck A., Bigner D., Lipp E., Marks J., McCall S., McLendon R., Secord A., Sharp A., Behera M., Brat D. J., Chen A., Delman K., Force S., Khuri F., Magliocca K., Maithel S., Olson J. J., Owonikoko T., Pickens A., Ramalingam S., Shin D. M., Sica G., Van Meir E. G., Eijckenboom W., Gillis A., Korpershoek E., Looijenga L., Oosterhuis W., Stoop H., van Kessel K. E., Zwarthoff E. C., Calatozzolo C., Cuppini L., Cuzzubbo S., DiMeco F., Finocchiaro G., Mattei L., Perin A., Pollo B., Chen C., Houck J., Lohavanichbutr P., Hartmann A., Stoehr C., Stoehr R., Taubert H., Wach S., Wullich B., Kycler W., Murawa D., Wiznerowicz M., Chung K., Edenfield W. J., Martin J., Baudin E., Bubley G., Bueno R., De Rienzo A., Richards W. G., Kalkanis S., Mikkelsen T., Noushmehr H., Scarpace L., Girard N., Aymerich M., Campo E., Gine E., Guillermo A. L., Van Bang N., Hanh P. T., Phu B. D., Tang Y., Colman H., Evason K., Dottino P. R., Martignetti J. A., Gabra H., Juhl H., Akeredolu T., Stepa S., Hoon D., Ahn K., Kang K. J., Beuschlein F., Breggia A., Birrer M., Bell D., Borad M., Bryce A. H., Castle E., Chandan V., Cheville J., Copland J. A., Farnell M., Flotte T., Giama N., Ho T., Kendrick M., Kocher J. -P., Kopp K., Moser C., Nagorney D., O'Brien D., O'Neill B. P., Patel T., Petersen G., Que F., Rivera M., Roberts L., Smallridge R., Smyrk T., Stanton M., Thompson R. H., Torbenson M., Yang J. D., Zhang L., Brimo F., Ajani J. A., Gonzalez A. M. A., Behrens C., Bondaruk J., Broaddus R., Czerniak B., Esmaeli B., Fujimoto J., Gershenwald J., Guo C., Lazar A. J., Logothetis C., Meric-Bernstam F., Moran C., Ramondetta L., Rice D., Sood A., Tamboli P., Thompson T., Troncoso P., Tsao A., Wistuba I., Carter C., Haydu L., Hersey P., Jakrot V., Kakavand H., Kefford R., Lee K., Long G., Mann G., Quinn M., Saw R., Scolyer R., Shannon K., Spillane A., Stretch J., Synott M., Thompson J., Wilmott J., Al-Ahmadie H., Chan T. A., Ghossein R., Gopalan A., Levine D. A., Reuter V., Singer S., Singh B., Tien N. V., Broudy T., Mirsaidi C., Nair P., Drwiega P., Miller J., Smith J., Zaren H., Park J. -W., Hung N. P., Kebebew E., Linehan W. M., Metwalli A. R., Pacak K., Pinto P. A., Schiffman M., Schmidt L. S., Vocke C. D., Wentzensen N., Worrell R., Yang H., Moncrieff M., Goparaju C., Melamed J., Pass H., Botnariuc N., Caraman I., Cernat M., Chemencedji I., Clipca A., Doruc S., Gorincioi G., Mura S., Pirtac M., Stancul I., Tcaciuc D., Albert M., Alexopoulou I., Arnaout A., Bartlett J., Engel J., Gilbert S., Parfitt J., Sekhon H., Thomas G., Rassl D. M., Rintoul R. C., Bifulco C., Tamakawa R., Urba W., Hayward N., Timmers H., Antenucci A., Facciolo F., Grazi G., Marino M., Merola R., de Krijger R., Gimenez-Roqueplo A. -P., Piche A., Chevalier S., McKercher G., Birsoy K., Barnett G., Brewer C., Farver C., Naska T., Pennell N. A., Raymond D., Schilero C., Smolenski K., Williams F., Morrison C., Borgia J. A., Liptay M. J., Pool M., Seder C. W., Junker K., Omberg L., Dinkin M., Manikhas G., Alvaro D., Bragazzi M. C., Cardinale V., Carpino G., Gaudio E., Chesla D., Cottingham S., Dubina M., Moiseenko F., Dhanasekaran R., Becker K. -F., Janssen K. -P., Slotta-Huspenina J., Abdel-Rahman M. H., Aziz D., Bell S., Cebulla C. M., Davis A., Duell R., Elder J. B., Hilty J., Kumar B., Lang J., Lehman N. L., Mandt R., Nguyen P., Pilarski R., Rai K., Schoenfield L., Senecal K., Wakely P., Hansen P., Lechan R., Powers J., Tischler A., Grizzle W. E., Sexton K. C., Kastl A., Henderson J., Porten S., Waldmann J., Fassnacht M., Asa S. L., Schadendorf D., Couce M., Graefen M., Huland H., Sauter G., Schlomm T., Simon R., Tennstedt P., Olabode O., Nelson M., Bathe O., Carroll P. R., Chan J. M., Disaia P., Glenn P., Kelley R. K., Landen C. N., Phillips J., Prados M., Simko J., Smith-McCune K., VandenBerg S., Roggin K., Fehrenbach A., Kendler A., Sifri S., Steele R., Jimeno A., Carey F., Forgie I., Mannelli M., Carney M., Hernandez B., Campos B., Herold-Mende C., Jungk C., Unterberg A., von Deimling A., Bossler A., Galbraith J., Jacobus L., Knudson M., Knutson T., Ma D., Milhem M., Sigmund R., Godwin A. K., Madan R., Rosenthal H. G., Adebamowo C., Adebamowo S. N., Boussioutas A., Beer D., Giordano T., Mes-Masson A. -M., Saad F., Bocklage T., Landrum L., Mannel R., Moore K., Moxley K., Postier R., Walker J., Zuna R., Feldman M., Valdivieso F., Dhir R., Luketich J., Pinero E. M. M., Quintero-Aguilo M., Carlotti C. G., Dos Santos J. S., Kemp R., Sankarankuty A., Tirapelli D., Catto J., Agnew K., Swisher E., Creaney J., Robinson B., Shelley C. S., Godwin E. M., Kendall S., Shipman C., Bradford C., Carey T., Haddad A., Moyer J., Peterson L., Prince M., Rozek L., Wolf G., Bowman R., Fong K. M., Yang I., Korst R., Rathmell W. K., Fantacone-Campbell J. L., Hooke J. A., Kovatich A. J., Shriver C. D., DiPersio J., Drake B., Govindan R., Heath S., Ley T., Van Tine B., Westervelt P., Rubin M. A., Lee J. I., Aredes N. D., Mariamidze A., Lichtarge O., Boutros P. C., Raphael B., Wendl M. C., Jain S., Wheeler D., Kulkarni S., Dipersio J. F., Reimand J., Chen K., Plon S. E., Chen F.

المساهمون: Huang, K. -L., Mashl, R. J., Wu, Y., Ritter, D. I., Wang, J., Oh, C., Paczkowska, M., Reynolds, S., Wyczalkowski, M. A., Oak, N., Scott, A. D., Krassowski, M., Cherniack, A. D., Houlahan, K. E., Jayasinghe, R., Wang, L. -B., Zhou, D. C., Liu, D., Cao, S., Kim, Y. W., Koire, A., Mcmichael, J. F., Hucthagowder, V., Kim, T. -B., Hahn, A., Wang, C., Mclellan, M. D., Al-Mulla, F., Johnson, K. J., Caesar-Johnson, S. J., Demchok, J. A., Felau, I., Kasapi, M., Ferguson, M. L., Hutter, C. M., Sofia, H. J., Tarnuzzer, R., Wang, Z., Yang, L., Zenklusen, J. C., Zhang, J. J., Chudamani, S., Liu, J., Lolla, L., Naresh, R., Pihl, T., Sun, Q., Wan, Y., Cho, J., Defreitas, T., Frazer, S., Gehlenborg, N., Getz, G., Heiman, D. I., Kim, J., Lawrence, M. S., Lin, P., Meier, S., Noble, M. S., Saksena, G., Voet, D., Zhang, H., Bernard, B., Chambwe, N., Dhankani, V., Knijnenburg, T., Kramer, R., Leinonen, K., Liu, Y., Miller, M., Shmulevich, I., Thorsson, V., Zhang, W., Akbani, R., Broom, B. M., Hegde, A. M., Ju, Z., Kanchi, R. S., Korkut, A., Li, J., Liang, H., Ling, S., Liu, W., Lu, Y., Mills, G. B., Ng, K. -S., Rao, A., Ryan, M., Weinstein, J. N., Zhang, J., Abeshouse, A., Armenia, J., Chakravarty, D., Chatila, W. K., de Bruijn, I., Gao, J., Gross, B. E.

مصطلحات موضوعية: cancer predisposition, germline and somatic genome, LOH, variant pathogenicity

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/29625052; info:eu-repo/semantics/altIdentifier/wos/WOS:000429320200011; volume:173; issue:2; firstpage:355; lastpage:370; numberofpages:16; journal:CELL; http://hdl.handle.net/11392/2437481; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044578706; https://www.sciencedirect.com/science/article/pii/S0092867418303635; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949147/pdf/nihms957308.pdf

الاتاحة: http://hdl.handle.net/11392/2437481
https://doi.org/10.1016/j.cell.2018.03.039
https://www.sciencedirect.com/science/article/pii/S0092867418303635
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949147/pdf/nihms957308.pdf

المؤلفون: Ally, A, Balasundaram, M, Carlsen, R, Chuah, E, Clarke, A, Dhalla, N, Holt, RA, Jones, SJM, Lee, D, Ma, Y, Marra, MA, Mayo, M, Moore, RA, Mungall, AJ, Schein, JE, Sipahimalani, P, Tam, A, Thiessen, N, Cheung, D, Wong, T, Brooks, D, Robertson, AG, Bowlby, R, Mungall, K, Sadeghi, S, Xi, L, Covington, K, Shinbrot, E, Wheeler, DA, Gibbs, RA, Donehower, LA, Wang, L, Bowen, J, Gastier-Foster, JM, Gerken, M, Helsel, C, Leraas, KM, Lichtenberg, TM, Ramirez, NC, Wise, L, Zmuda, E, Gabriel, SB, Meyerson, M, Cibulskis, C, Murray, BA, Shih, J, Beroukhim, R, Cherniack, AD, Schumacher, SE, Saksena, G, Pedamallu, CS, Chin, L, Getz, G, Noble, M, Zhang, H, Heiman, D, Cho, J, Gehlenborg, N, Voet, D, Lin, P, Frazer, S, Defreitas, T, Meier, S, Lawrence, M, Kim, J, Creighton, CJ, Muzny, D, Doddapaneni, H, Hu, J, Wang, M, Morton, D, Korchina, V, Han, Y, Dinh, H, Lewis, L, Bellair, M, Liu, X, Santibanez, J, Glenn, R, Lee, S, Hale, W, Parker, JS, Wilkerson, MD, Hayes, DN, Reynolds, SM, Shmulevich, I, Zhang, W, Liu, Y, Iype, L, Makhlouf, H, Torbenson, MS, Kakar, S, Yeh, MM, Kleiner, DE, Jain, D, Dhanasekaran, R, El-Serag, HB, Yim, SY, Weinstein, JN, Mishra, L, Zhang, J, Akbani, R, Ling, S, Ju, Z, Su, X, Hegde, AM, Mills, GB, Lu, Y, Chen, J, Lee, J-S, Sohn, BH, Shim, JJ, Tong, P, Aburatani, H, Yamamoto, S, Tatsuno, K, Li, W, Xia, Z, Stransky, N, Seiser, E, Innocenti, F, Gao, J, Kundra, R, Heins, Z, Ochoa, A, Sander, C, Ladanyi, M, Shen, R, Arora, A, Sanchez-Vega, F, Schultz, N, Kasaian, K, Radenbaugh, A, Bissig, K-D, Moore, DD, Totoki, Y, Nakamura, H, Shibata, T, Yau, C, Graim, K, Stuart, J, Haussler, D, Slagle, BL, Ojesina, AI, Katsonis, P, Koire, A, Lichtarge, O, Hsu, T-K, Ferguson, ML, Demchok, JA, Felau, I, Sheth, M, Tarnuzzer, R, Wang, Z, Yang, L, Zenklusen, JC, Hutter, CM, Sofia, HJ, Verhaak, RGW, Zheng, S, Lang, F, Chudamani, S, Liu, J, Lolla, L, Wu, Y, Naresh, R, Pihl, T, Sun, C, Wan, Y, Benz, C, Perou, AH, Thorne, LB, Boice, L, Huang, M, Rathmell, WK, Noushmehr, H, Saggioro, FP, Tirapelli, DPDC, Carlotti, CGJ, Mente, ED, Silva, ODC, Trevisan, FA, Kang, KJ, Ahn, KS, Giama, NH, Moser, CD, Giordano, TJ, Vinco, M, Welling, TH, Crain, D, Curley, E, Gardner, J, Mallery, D, Morris, S, Paulauskis, J, Penny, R, Shelton, C, Shelton, T, Kelley, RK, Park, J-W, Chandan, VS, Roberts, LR, Bathe, OF, Hagedorn, CH, Auman, JT, O'Brien, DR, Kocher, J-PA, Jones, CD, Mieczkowski, PA, Perou, CM, Skelly, T, Tan, D, Veluvolu, U, Balu, S, Bodenheimer, T, Hoyle, AP, Jefferys, SR, Meng, S, Mose, LE, Shi, Y, Simons, JV, Soloway, MG, Roach, J, Hoadley, KA, Baylin, SB, Shen, H, Hinoue, T, Bootwalla, MS, Van den Berg, DJ, Weisenberger, DJ, Lai, PH, Holbrook, A, Berrios, M, Laird, PW

المصدر: Cell , 169 (7) 1327-1341.e23. (2017)

مصطلحات موضوعية: Cell Biology, RNA-SEQ DATA, LIVER-CANCER, MUTATIONAL LANDSCAPE, THERAPEUTIC TARGETS, EXPRESSION PROFILES, SEQUENCING DATA, GENE, DNA, PREDICTION, DISCOVERY

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10038903/1/1-s2.0-S0092867417306396-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10038903/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10038903/1/1-s2.0-S0092867417306396-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10038903/

المؤلفون: Xu, Q, Tang, Q, Katsonis, P, Lichtarge, O, Jones, D, Bovo, S, Babbi, G, Martelli, PL, Casadio, R, Lee, GR, Seok, C, Fenton, AW, Dunbrack, RL

المصدر: Human Mutation , 38 (9) pp. 1123-1131. (2017)

مصطلحات موضوعية: allosteric effect, CAGI experiment, liver pyruvate kinase, missense mutation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1547713/1/humu23222.pdf; https://discovery.ucl.ac.uk/id/eprint/1547713/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1547713/1/humu23222.pdf
https://discovery.ucl.ac.uk/id/eprint/1547713/

المؤلفون: Schönegge, A.M., Gallion, J., Picard, L.P., Wilkins, A.D., Le Gouill, C., Audet, M., Stallaert, W., Lohse, M.J., Kimmel, M., Lichtarge, O., Bouvier, M.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

وصف الملف: application/pdf

Relation: http://edoc.mdc-berlin.de/16983/1/16983oa.pdf; http://edoc.mdc-berlin.de/16983/7/16983suppl.pdf; Evolutionary action and structural basis of the allosteric switch controlling β(2)AR functional selectivity. Schönegge, A.M. and Gallion, J. and Picard, L.P. and Wilkins, A.D. and Le Gouill, C. and Audet, M. and Stallaert, W. and Lohse, M.J. and Kimmel, M. and Lichtarge, O. and Bouvier, M. Nature Communications 8 (1): 2169. 18 December 2017

الاتاحة: http://edoc.mdc-berlin.de/16983/
https://edoc.mdc-berlin.de/16983/
http://edoc.mdc-berlin.de/16983/1/16983oa.pdf
http://edoc.mdc-berlin.de/16983/7/16983suppl.pdf
https://doi.org/10.1038/s41467-017-02257-x

المؤلفون: Radivojac, P., Clark, W. T., Oron, T. R., Schnoes, A. M., Wittkop, T., Sokolov, A., Graim, K., Funk, C., Verspoor, K., Ben Hur, A., Pandey, G., Yunes, J. M., Talwalkar, A. S., Repo, S., Souza, M. L., Piovesan, D., Casadio, R., Wang, Z., Cheng, J. L., Fang, H., Goughl, J., Koskinen, P., Toronen, P., Nokso Koivisto, J., Holm, L., Cozzetto, D., Buchan, D. W. A., Bryson, K., Jones, D. T., Limaye, B., Inamdar, H., Datta, A., Manjari, S. K., Joshi, R., Chitale, M., Kihara, D., Lisewski, A. M., Erdin, S., Venner, E., Lichtarge, O., Rentzsch, R., Yang, H. X., Romero, A. E., Bhat, P., Paccanaro, A., Hamp, T., Kassner, R., Seemayer, S., Vicedo, E., Schaefer, C., Achten, D., Auer, F., Boehm, A., Braun, T., Hecht, M., Heron, M., Honigschmid, P., Hopf, T. A., Kaufmann, S., Kiening, M., Krompass, D., Landerer, C., Mahlich, Y., Roos, M., Bjorne, J., Salakoski, T., Wong, A., Shatkay, H., Gatzmann, F., Sommer, I., Wass, M. N., Sternberg, M. J. E., Skunca, N., Supek, F., Bosnjak, M., Panov, P., Dzeroski, S., Smuc, T., Kourmpetis, Y. A. I., van Dijk, A. D. J., ter Braak, C. J. F., Zhou, Y. P., Gong, Q. T., Dong, X. R., Tian, W. D., Falda, M., Lavezzo, E., Di Camillo, B., Toppo, S., Lan, L., Djuric, N., Guo, Y. H., Vucetic, S., Bairoch, A., Linial, M., Babbitt, P. C., Brenner, S. E., Orengo, C., Rost, B., Mooney, S. D., Friedberg, I., Fontana, Paolo

المساهمون: Radivojac, P., Clark, W.T., Oron, T.R., Schnoes, A.M., Wittkop, T., Sokolov, A., Graim, K., Funk, C., Verspoor, K., Ben Hur, A., Pandey, G., Yunes, J.M., Talwalkar, A.S., Repo, S., Souza, M.L., Piovesan, D., Casadio, R., Wang, Z., Cheng, J.L., Fang, H., Goughl, J., Koskinen, P., Toronen, P., Nokso Koivisto, J., Holm, L., Cozzetto, D., Buchan, D.W.A., Bryson, K., Jones, D.T., Limaye, B., Inamdar, H., Datta, A., Manjari, S.K., Joshi, R., Chitale, M., Kihara, D., Lisewski, A.M., Erdin, S., Venner, E., Lichtarge, O., Rentzsch, R., Yang, H.X., Romero, A.E., Bhat, P., Paccanaro, A., Hamp, T., Kassner, R., Seemayer, S., Vicedo, E., Schaefer, C., Achten, D., Auer, F., Boehm, A., Braun, T., Hecht, M., Heron, M., Honigschmid, P., Hopf, T.A., Kaufmann, S., Kiening, M., Krompass, D., Landerer, C., Mahlich, Y., Roos, M., Bjorne, J., Salakoski, T., Wong, A., Shatkay, H., Gatzmann, F., Sommer, I., Wass, M.N., Sternberg, M.J.E., Skunca, N., Supek, F., Bosnjak, M., Panov, P., Dzeroski, S., Smuc, T., Kourmpetis, Y.A.I., van Dijk, A.D.J., ter Braak, C.J.F., Zhou, Y.P., Gong, Q.T., Dong, X.R., Tian, W.D., Falda, M., Fontana, P., Lavezzo, E., Di Camillo, B., Toppo, S., Lan, L., Djuric, N., Guo, Y.H., Vucetic, S., Bairoch, A., Linial, M., Babbitt, P.C., Brenner, S.E., Orengo, C., Rost, B.

مصطلحات موضوعية: Settore BIO/11 - BIOLOGIA MOLECOLARE

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000347030200002; volume:10; issue:3; firstpage:221; lastpage:227; journal:NATURE METHODS; http://hdl.handle.net/10449/22010; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84874663959; http://www.nature.com/nmeth/journal/v10/n3/pdf/nmeth.2340.pdf

الاتاحة: http://hdl.handle.net/10449/22010
https://doi.org/10.1038/NMETH.2340
http://www.nature.com/nmeth/journal/v10/n3/pdf/nmeth.2340.pdf

المؤلفون: Radivojac, P, Clark, WT, Oron, TR, Schnoes, AM, Wittkop, T, Sokolov, A, Graim, K, Funk, C, Verspoor, K, Ben-Hur, A, Pandey, G, Yunes, JM, Talwalkar, AS, Repo, S, Souza, ML, Piovesan, D, Casadio, R, Wang, Z, Cheng, J, Fang, H, Goughl, J, Koskinen, P, Toronen, P, Nokso-Koivisto, J, Holm, L, Cozzetto, D, Buchan, DWA, Bryson, K, Jones, DT, Limaye, B, Inamdar, H, Datta, A, Manjari, SK, Joshi, R, Chitale, M, Kihara, D, Lisewski, AM, Erdin, S, Venner, E, Lichtarge, O, Rentzsch, R, Yang, H, Romero, AE, Bhat, P, Paccanaro, A, Hamp, T, Kassner, R, Seemayer, S, Vicedo, E, Schaefer, C, Achten, D, Auer, F, Boehm, A, Braun, T, Hecht, M, Heron, M, Hoenigschmid, P, Hopf, TA, Kaufmann, S, Kiening, M, Krompass, D, Landerer, C, Mahlich, Y, Roos, M, Bjorne, J, Salakoski, T, Wong, A, Shatkay, H, Gatzmann, F, Sommer, I, Wass, MN, Sternberg, MJE, Skunca, N, Supek, F, Bosnjak, M, Panov, P, Dzeroski, S, Smuc, T, Kourmpetis, YAI, van Dijk, ADJ, ter Braak, CJF, Zhou, Y, Gong, Q, Dong, X, Tian, W, Falda, M, Fontana, P, Lavezzo, E, Di Camillo, B, Toppo, S, Lan, L, Djuric, N, Guo, Y, Vucetic, S, Bairoch, A, Linial, M, Babbitt, PC, Brenner, SE, Orengo, C, Rost, B, Mooney, SD, Friedberg, I

Relation: pii: nmeth.2340; Radivojac, P., Clark, W. T., Oron, T. R., Schnoes, A. M., Wittkop, T., Sokolov, A., Graim, K., Funk, C., Verspoor, K., Ben-Hur, A., Pandey, G., Yunes, J. M., Talwalkar, A. S., Repo, S., Souza, M. L., Piovesan, D., Casadio, R., Wang, Z., Cheng, J. ,. Friedberg, I. (2013). A large-scale evaluation of computational protein function prediction. NATURE METHODS, 10 (3), pp.221-227. https://doi.org/10.1038/NMETH.2340.; http://hdl.handle.net/11343/127455

الاتاحة: http://hdl.handle.net/11343/127455

المؤلفون: Monzon A. M., Carraro M., Chiricosta L., Reggiani F., Han J., Ozturk K., Wang Y., MILLER, HEATHER MARGARET LOUISE, Bromberg Y., Capriotti E., Savojardo C., Babbi G., Martelli P. L., Casadio R., Katsonis P., Lichtarge O., Carter H., Kousi M., Katsanis N., Andreoletti G., Moult J., Brenner S. E., Ferrari C., Leonardi E., Tosatto S. C. E.

المساهمون: Monzon, A. M., Carraro, M., Chiricosta, L., Reggiani, F., Han, J., Ozturk, K., Wang, Y., Miller, HEATHER MARGARET LOUISE, Bromberg, Y., Capriotti, E., Savojardo, C., Babbi, G., Martelli, P. L., Casadio, R., Katsonis, P., Lichtarge, O., Carter, H., Kousi, M., Katsanis, N., Andreoletti, G., Moult, J., Brenner, S. E., Ferrari, C., Leonardi, E., Tosatto, S. C. E.

مصطلحات موضوعية: bioinformatics tool, community challenge, critical assessment, effect prediction, missense mutation, variant interpretation

Relation: info:eu-repo/semantics/altIdentifier/pmid/31260570; info:eu-repo/semantics/altIdentifier/wos/WOS:000481679800001; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3307133; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070520084

الاتاحة: http://hdl.handle.net/11577/3307133
https://doi.org/10.1002/humu.23856