المؤلفون: Dawood, Moez, Heavner, Ben, Wheeler, Marsha M., Ungar, Rachel A., LoTempio, Jonathan, Wiel, Laurens, Berger, Seth, Bernstein, Jonathan A., Chong, Jessica X., Délot, Emmanuèle C., Eichler, Evan E., Gibbs, Richard A., Lupski, James R., Shojaie, Ali, Talkowski, Michael E., Wagner, Alex H., Wei, Chia-Lin, Wellington, Christopher, Wheeler, Matthew T., Members, GREGoR Partner, Carvalho, Claudia M. B., Gifford, Casey A., May, Susanne, Miller, Danny E., Rehm, Heidi L., Sedlazeck, Fritz J., Vilain, Eric, O'Donnell-Luria, Anne, Posey, Jennifer E., Chadwick, Lisa H., Bamshad, Michael J., Montgomery, Stephen B., Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium

مصطلحات موضوعية: Quantitative Biology - Other Quantitative Biology

URL الوصول: http://arxiv.org/abs/2412.14338

المؤلفون: Zalusky, Miranda PG, Miller, Danny E

مصطلحات موضوعية: Quantitative Biology - Genomics, Quantitative Biology - Quantitative Methods

URL الوصول: http://arxiv.org/abs/2402.17182

المؤلفون: Kim, Bernard Y, Gellert, Hannah R, Church, Samuel H, Suvorov, Anton, Anderson, Sean S, Barmina, Olga, Beskid, Sofia G, Comeault, Aaron A, Crown, K Nicole, Diamond, Sarah E, Dorus, Steve, Fujichika, Takako, Hemker, James A, Hrcek, Jan, Kankare, Maaria, Katoh, Toru, Magnacca, Karl N, Martin, Ryan A, Matsunaga, Teruyuki, Medeiros, Matthew J, Miller, Danny E, Pitnick, Scott, Schiffer, Michele, Simoni, Sara, Steenwinkel, Tessa E, Syed, Zeeshan A, Takahashi, Aya, Wei, Kevin H-C, Yokoyama, Tsuya, Eisen, Michael B, Kopp, Artyom, Matute, Daniel, Obbard, Darren J, O’Grady, Patrick M, Price, Donald K, Toda, Masanori J, Werner, Thomas, Petrov, Dmitri A

المصدر: PLOS Biology. 22(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Evolutionary Biology, Genetics, Biotechnology, Human Genome, Bioengineering, Generic health relevance, Animals, Phylogeny, Drosophilidae, Genome, Insect, Genomics, Sequence Analysis, DNA, High-Throughput Nucleotide Sequencing, Agricultural and Veterinary Sciences, Medical and Health Sciences, Developmental Biology, Agricultural, veterinary and food sciences, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/12624525
https://escholarship.org/content/qt12624525/qt12624525.pdf

المؤلفون: Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.

مصطلحات موضوعية: Quantitative Biology - Genomics

URL الوصول: http://arxiv.org/abs/2301.07363

المؤلفون: Aganezov, Sergey, Yan, Stephanie M, Soto, Daniela C, Kirsche, Melanie, Zarate, Samantha, Avdeyev, Pavel, Taylor, Dylan J, Shafin, Kishwar, Shumate, Alaina, Xiao, Chunlin, Wagner, Justin, McDaniel, Jennifer, Olson, Nathan D, Sauria, Michael EG, Vollger, Mitchell R, Rhie, Arang, Meredith, Melissa, Martin, Skylar, Lee, Joyce, Koren, Sergey, Rosenfeld, Jeffrey A, Paten, Benedict, Layer, Ryan, Chin, Chen-Shan, Sedlazeck, Fritz J, Hansen, Nancy F, Miller, Danny E, Phillippy, Adam M, Miga, Karen H, McCoy, Rajiv C, Dennis, Megan Y, Zook, Justin M, Schatz, Michael C

المصدر: Science. 376(6588)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, 2.1 Biological and endogenous factors, Generic health relevance, Genetic Variation, Genome, Human, Genomics, Humans, Reference Standards, Sequence Analysis, DNA, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/18c391gh
https://escholarship.org/content/qt18c391gh/qt18c391gh.pdf

المؤلفون: Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V, Mikheenko, Alla, Vollger, Mitchell R, Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J, Diekhans, Mark, Logsdon, Glennis A, Alonge, Michael, Antonarakis, Stylianos E, Borchers, Matthew, Bouffard, Gerard G, Brooks, Shelise Y, Caldas, Gina V, Chen, Nae-Chyun, Cheng, Haoyu, Chin, Chen-Shan, Chow, William, de Lima, Leonardo G, Dishuck, Philip C, Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T, Formenti, Giulio, Fulton, Robert S, Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick GS, Graves-Lindsay, Tina A, Hall, Ira M, Hansen, Nancy F, Hartley, Gabrielle A, Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W, Jain, Chirag, Jain, Miten, Jarvis, Erich D, Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V, Marschall, Tobias, McCartney, Ann M, McDaniel, Jennifer, Miller, Danny E, Mullikin, James C, Myers, Eugene W, Olson, Nathan D, Paten, Benedict, Peluso, Paul, Pevzner, Pavel A, Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I, Rosenfeld, Jeffrey A, Salzberg, Steven L, Schneider, Valerie A, Sedlazeck, Fritz J, Shafin, Kishwar, Shew, Colin J, Shumate, Alaina, Sims, Ying, Smit, Arian FA, Soto, Daniela C, Sović, Ivan, Storer, Jessica M, Streets, Aaron, Sullivan, Beth A, Thibaud-Nissen, Françoise, Torrance, James, Wagner, Justin, Walenz, Brian P, Wenger, Aaron, Wood, Jonathan MD, Xiao, Chunlin, Yan, Stephanie M, Young, Alice C, Zarate, Samantha, Surti, Urvashi, McCoy, Rajiv C, Dennis, Megan Y, Alexandrov, Ivan A, Gerton, Jennifer L, O’Neill, Rachel J, Timp, Winston, Zook, Justin M, Schatz, Michael C, Eichler, Evan E, Miga, Karen H, Phillippy, Adam M

المصدر: Science. 376(6588)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 1.1 Normal biological development and functioning, Generic health relevance, Cell Line, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Genome, Human, Human Genome Project, Humans, Reference Values, Sequence Analysis, DNA, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4hh2h517
https://escholarship.org/content/qt4hh2h517/qt4hh2h517.pdf

المؤلفون: Kim, Bernard Y, Wang, Jeremy R, Miller, Danny E, Barmina, Olga, Delaney, Emily, Thompson, Ammon, Comeault, Aaron A, Peede, David, D'Agostino, Emmanuel Rr, Pelaez, Julianne, Aguilar, Jessica M, Haji, Diler, Matsunaga, Teruyuki, Armstrong, Ellie E, Zych, Molly, Ogawa, Yoshitaka, Stamenković-Radak, Marina, Jelić, Mihailo, Veselinović, Marija Savić, Tanasković, Marija, Erić, Pavle, Gao, Jian-Jun, Katoh, Takehiro K, Toda, Masanori J, Watabe, Hideaki, Watada, Masayoshi, Davis, Jeremy S, Moyle, Leonie C, Manoli, Giulia, Bertolini, Enrico, Košťál, Vladimír, Hawley, R Scott, Takahashi, Aya, Jones, Corbin D, Price, Donald K, Whiteman, Noah, Kopp, Artyom, Matute, Daniel R, Petrov, Dmitri A

مصطلحات موضوعية: D. melanogaster, Drosophila, Drosophilidae, comparative genomics, evolutionary biology, genetics, genome assembly, genomics, long reads, nanopore, Biochemistry and Cell Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9z90c14p

المؤلفون: Marquez, Jonathan, Cech, Jennifer N., Paschal, Cate R., Dingmann, Bri, Scott, Anna I., Thies, Jenny M., Mills, Maria R., Albert, Catherine M., Beck, Anita E., Beckman, Erika, Bonkowski, Emily S., Earl, Dawn L., Lam, Christina T., Mefford, Heather C., Merritt, J. Lawrence, Nelson, Zoe, Ohlsen, Timothy J.D., Taylor, Mallory R., Perlman, Seth J., Rudzinski, Erin R., Sikes, Megan C., Waligorski, Natalie, Wenger, Tara L., Adam, Margaret P., Mirzaa, Ghayda M., Bennett, James T., Glass, Ian A., Sternen, Darci L., Miller, Danny E.

المصدر: Genetics in Medicine Open ; volume 2, page 101886 ; ISSN 2949-7744

الاتاحة: https://doi.org/10.1016/j.gimo.2024.101886
https://api.elsevier.com/content/article/PII:S294977442401032X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S294977442401032X?httpAccept=text/plain

المؤلفون: Mori, Takayasu, Fujimaru, Takuya, Liu, Chunyu, Patterson, Karynne, Yamamoto, Kouhei, Suzuki, Takefumi, Chiga, Motoko, Sekine, Akinari, Ubara, Yoshifumi, Miller, Danny E., Zalusky, Miranda P.G., Mandai, Shintaro, Ando, Fumiaki, Mori, Yutaro, Kikuchi, Hiroaki, Susa, Koichiro, Wei, Chia-Lin, Bamshad, Michael J., Eichler, Evan E., Anderson, Kailyn, Anderson, Peter, Bacus, Tamara J., Best, Sabrina, Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Carroll, Brianne, Casadei, Silvia, Chong, Jessica X., Damaraju, Nikhita, Davis, Colleen P., Frazar, Christian D., Gibson, Sophia, Goffena, Joy, Gordon, William W., Gustafson, Jonas A., Harvey, William T., Horike-Pyne, Martha, Hurless, Jameson R., Jacques, Caitlin, Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Liu, Xiaomeng, Marvin, Colby T., McGee, Sean, Meyers, Holli, Nielsen, Patrick M.

المساهمون: AMED, Japan Society for the Promotion of Science, NHGRI, National Natural Science Foundation of China, NIH

المصدر: Kidney International Reports ; volume 9, issue 12, page 3580-3591 ; ISSN 2468-0249

الاتاحة: https://doi.org/10.1016/j.ekir.2024.09.013
https://api.elsevier.com/content/article/PII:S2468024924019417?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2468024924019417?httpAccept=text/plain

المؤلفون: Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Juusola, Jane, Yang, Jun

المصدر: The American Journal of Human Genetics ; volume 111, issue 6, page 1240 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.05.004
https://api.elsevier.com/content/article/PII:S0002929724001678?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724001678?httpAccept=text/plain

المؤلفون: Wilderman, Andrea, D'haene, Eva, Baetens, Machteld, Yankee, Tara N., Winchester, Emma Wentworth, Glidden, Nicole, Roets, Ellen, Van Dorpe, Jo, Janssens, Sandra, Miller, Danny E., Galey, Miranda, Brown, Kari M., Stottmann, Rolf W., Vergult, Sarah, Weaver, K. Nicole, Brugmann, Samantha A., Cox, Timothy C., Cotney, Justin

المصدر: NATURE COMMUNICATIONS ; ISSN: 2041-1723

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900; https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900/file/01HKWA8GSQY5QAM6KD0ZN394HA

الاتاحة: https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900
http://hdl.handle.net/1854/LU-01HKWA6MYTK8FZATD74A2HC900
https://doi.org/10.1038/s41467-023-44506-2
https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900/file/01HKWA8GSQY5QAM6KD0ZN394HA

المؤلفون: Fleming, Andrew, Galey, Miranda, Briggs, Lizi, Edwards, Matthew, Hogg, Claire, John, Shibu, Wilkinson, Sam, Quinn, Ellie, Rai, Ranjit, Burgoyne, Tom, Rogers, Andy, Patel, Mitali P., Griffin, Paul, Muller, Steven, Carr, Siobhan B., Loebinger, Michael R., Lucas, Jane S., Shah, Anand, Jose, Ricardo, Mitchison, Hannah M., Shoemark, Amelia, Miller, Danny E., Morris-Rosendahl, Deborah J.

المصدر: Fleming , A , Galey , M , Briggs , L , Edwards , M , Hogg , C , John , S , Wilkinson , S , Quinn , E , Rai , R , Burgoyne , T , Rogers , A , Patel , M P , Griffin , P , Muller , S , Carr , S B , Loebinger , M R , Lucas , J S , Shah , A , Jose , R , Mitchison , H M , Shoemark , A , Miller , D E & Morris-Rosendahl , D J 2024 ....

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/e4e2e454-4b4c-4d45-8ff0-947737faa065
https://doi.org/10.1038/s41431-024-01599-7
https://discovery.dundee.ac.uk/ws/files/131120070/s41431-024-01599-7.pdf

المؤلفون: Kim, Bernard Y., Gellert, Hannah R., Church, Samuel H., Suvorov, Anton, Anderson, Sean S., Barmina, Olga, Beskid, Sofia G., Comeault, Aaron A., Crown, K. Nicole, Diamond, Sarah E., Dorus, Steve, Fujichika, Takako, Hemker, James A., Hrcek, Jan, Kankare, Maaria, Katoh, Toru, Magnacca, Karl N., Martin, Ryan A., Matsunaga, Teruyuki, Medeiros, Matthew J., Miller, Danny E., Pitnick, Scott, Schiffer, Michele, Simoni, Sara, Steenwinkel, Tessa E., Syed, Zeeshan A., Takahashi, Aya, Wei, Kevin H-C., Yokoyama, Tsuya, Eisen, Michael B., Kopp, Artyom, Matute, Daniel, Obbard, Darren J., O’Grady, Patrick M., Price, Donald K., Toda, Masanori J., Werner, Thomas, Petrov, Dmitri A.

مصطلحات موضوعية: invertebrate genomics, drosophila melanogaster, genome sequencing, sequence alignment, comparative genomics, phylogenetic analysis, reptile genomics, phylogenetics, fylogenetiikka, perinnöllisyystiede, perimä, evoluutio, matelijat

وصف الملف: application/pdf; e3002697; fulltext

Relation: PLoS Biology; 22; 322980; Research Council of Finland; Suomen Akatemia; CONVID_233227866

الاتاحة: http://urn.fi/URN:NBN:fi:jyu-202408015283

المؤلفون: Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., Miller, Danny E.

المساهمون: National Institute of Mental Health, Howard Hughes Medical Institute, National Human Genome Research Institute, National Institutes of Health

المصدر: Genetics in Medicine Open ; volume 2, page 101833 ; ISSN 2949-7744

الاتاحة: https://doi.org/10.1016/j.gimo.2024.101833
https://api.elsevier.com/content/article/PII:S2949774424009798?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424009798?httpAccept=text/plain

المؤلفون: Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery B, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CR, Genomics Research to Elucidate the Genetics of Rare Diseases (GR, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E

مصطلحات موضوعية: bioinformatics, genetics & nucleic acid processing, genomics and proteomics, genomes

وصف الملف: application/pdf

Relation: https://repository.cshl.edu/id/eprint/41700/1/10.1101.gr.279273.124.pdf; Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery B, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CR, Genomics Research to Elucidate the Genetics of Rare Diseases (GR, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E (October 2024) High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Genome Research. gr.279273.124-gr.279273.124. ISSN 1088-9051 (Public Dataset)

الاتاحة: https://repository.cshl.edu/id/eprint/41700/
https://repository.cshl.edu/id/eprint/41700/1/10.1101.gr.279273.124.pdf
https://www.ncbi.nlm.nih.gov/pubmed/39358015
https://doi.org/10.1101/gr.279273.124

المؤلفون: Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CR, Genomics Research to Elucidate the Genetics of Rare Diseases (GR, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E

مصطلحات موضوعية: bioinformatics, genetics & nucleic acid processing, genomics and proteomics, genomes

وصف الملف: application/pdf

Relation: https://repository.cshl.edu/id/eprint/41468/1/2024.03.05.24303792v1.full.pdf; Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CR, Genomics Research to Elucidate the Genetics of Rare Diseases (GR, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E (March 2024) Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv. (Public Dataset) (Submitted)

الاتاحة: https://repository.cshl.edu/id/eprint/41468/
https://repository.cshl.edu/id/eprint/41468/1/2024.03.05.24303792v1.full.pdf
https://www.ncbi.nlm.nih.gov/pubmed/38496498
https://doi.org/10.1101/2024.03.05.24303792

المؤلفون: Solares, Edwin A, Chakraborty, Mahul, Miller, Danny E, Kalsow, Shannon, Hall, Kate, Perera, Anoja G, Emerson, JJ, Hawley, R Scott

المصدر: G3 (Bethesda, Md.). 8(10)

مصطلحات موضوعية: Animals, Drosophila melanogaster, Sequence Analysis, DNA, Computational Biology, Genomics, Gene Library, Genome, Insect, Genome, Mitochondrial, Genetic Variation, Molecular Sequence Annotation, High-Throughput Nucleotide Sequencing, Drosophila, genome assembly, nanopore sequencing, Sequence Analysis, DNA, Genome, Insect, Mitochondrial, Genetics, Human Genome, Basic Behavioral and Social Science, Biotechnology, Behavioral and Social Science, 2.1 Biological and endogenous factors, Generic Health Relevance

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8bp73388

المؤلفون: Miller, Danny E., Dorador, Ana P., Van Vaerenberghe, Kelley, Li, Angela, Grantham, Emily K., Cerbin, Stefan, Cummings, Celeste, Barragan, Marilyn, Egidy, Rhonda R., Scott, Allison R., Hall, Kate E., Perera, Anoja, Gilliland, William D., Hawley, R. Scott, Blumenstiel, Justin P.

مصطلحات موضوعية: Biosynthesis, Gene silencing, Invertebrate genomics, Drosophila melanogaster, RNA sequencing, Ovaries, Gene expression, Silencer elements

وصف الملف: application/pdf

Relation: Miller DE, Dorador AP, Van Vaerenberghe K, Li A, Grantham EK, Cerbin S, et al. (2023) Off-target piRNA gene silencing in Drosophila melanogaster rescued by a transposable element insertion. PLoS Genet 19(2): e1010598. https://doi.org/10.1371/journal.pgen.1010598; https://hdl.handle.net/1808/34171; orcid:0000-0001-6096-8601; orcid:0000-0002-6873-7688; orcid:0000-0003-3965-5293; orcid:0000-0001-6221-9292

الاتاحة: https://hdl.handle.net/1808/34171
https://doi.org/10.1371/journal.pgen.1010598

المؤلفون: Pujol-Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E, Albano, Giuseppe, Miller, Danny E, Allworth, Aimee, Bennett, James T, Byers, Peter H, Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B, Gillentine, Madelyn A, Glass, Ian, Hing, Anne, Horike-Pyne, Martha, Leppig, Kathleen A, Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H, Rosenthal, Elisabeth A, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P, Timms, Andrew, Wener, Mark, Bamshad, Michael J, Hisama, Fuki M, Jarvik, Gail P, Dipple, Katrina M, Hediger, Matthias A., Stergachis, Andrew B

المصدر: Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; . (2023). Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Annals of Clinical and Translational Neurology, 10(6), pp. 1046-1053. Wiley 10.1002/acn3.51786

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/182661/

الاتاحة: https://boris.unibe.ch/182661/1/Ann_Clin_Transl_Neurol_-_2023_-_Pujol_Gim_nez_-_Dominant_negative_variant_in_SLC1A4_causes_an_autosomal_dominant_epilepsy.pdf
https://boris.unibe.ch/182661/

المؤلفون: Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.

المساهمون: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, National Institutes of Health, Burroughs Wellcome Fund, National Human Genome Research Institute

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 6, page 1046-1053 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51786
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51786