المؤلفون: Núria Hermosilla-Albala, Felipe Ennes Silva, Sebastián Cuadros-Espinoza, Claudia Fontsere, Alejandro Valenzuela-Seba, Harvinder Pawar, Marta Gut, Joanna L. Kelley, Sandra Ruibal-Puertas, Pol Alentorn-Moron, Armida Faella, Esther Lizano, Izeni Farias, Tomas Hrbek, Joao Valsecchi, Ivo G. Gut, Jeffrey Rogers, Kyle Kai-How Farh, Lukas F. K. Kuderna, Tomas Marques-Bonet, Jean P. Boubli

المصدر: Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/2fd9910959ba4493b9d6650ad059eb13

المؤلفون: Stephan J. Sanders, Grace B. Schwartz, Kyle Kai-How Farh

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Gene splicing, Isoform, SpliceAI, Autism spectrum disorder, Developmental delay, Clinical exome sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00737-2; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/aea0f1cee9f344ddaf5dc445e76332d3

المؤلفون: Hong Gao, Tobias Hamp, Jeffrey Ede, Joshua G. Schraiber, Jeremy McRae, Moriel Singer-Berk, Yanshen Yang, Anastasia Dietrich, Petko Fiziev, Lukas Kuderna, Laksshman Sundaram, Yibing Wu, Aashish Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, Francois Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel Balick, Mareike C. Janiak, Martin Kuhlwilm, Joseph D. Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rouselle, Felipe Ennes Silva, Lidia Agueda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R. Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S. Chuma, Julie Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano R. de Melo, Fabricio Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Farias, João Valsecchi do Amaral, Mariluce Messias, Maria N. F. da Silva, Mihir Trivedi, Rogerio Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J. Rabarivola, Alphonse Zaramody, Clifford J. Jolly, Jane Phillips-Conroy, Gregory Wilkerson, Christian Abee, Joe H. Simmons, Eduardo Fernandez-Duque, ee Kanthaswamy, Fekadu Shiferaw, Dongdong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D. Keyyu, Sascha Knauf, Minh D. Le, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Batallion, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C. Kitchener, Dietmar Zinner, Ivo Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M. D. Beck, Govindhaswamy Umapathy, Christian Roos, Jean P. Boubli, Monkol Lek, Shamil Sunyaev, Anne O’Donnell, Heidi Rehm, Jinbo Xu, Jeffrey Rogers, Tomas Marques-Bonet, Kyle Kai-How Farh

المصدر: Gao, H, Hamp, T, Ede, J, Schraiber, J G, McRae, J, Singer-Berk, M, Yang, Y, Dietrich, A S D, Fiziev, P P, Kuderna, L F K, Sundaram, L, Wu, Y, Adhikari, A, Field, Y, Chen, C, Batzoglou, S, Aguet, F, Lemire, G, Reimers, R, Balick, D, Janiak, M C, Kuhlwilm, M, Orkin, J D, Manu, S, Valenzuela, A, Bergman, J, Rousselle, M, Silva, F E, Agueda, L, Blanc, J, Gut, M, de Vries, D, Goodhead, I, Harris, R A, Raveendran, M, Jensen, A, Chuma, I S, Horvath, J E, Hvilsom, C, Juan, D, Frandsen, P, de Melo, F R, Bertuol, F, Byrne, H, Sampaio, I, Farias, I, do Amaral, J V, Messias, M, da Silva, M N F, Trivedi, M, Rossi, R, Hrbek, T, Andriaholinirina, N, Rabarivola, C J, Zaramody, A, Jolly, C J, Phillips-Conroy, J, Wilkerson, G, Abee, C, Simmons, J H, Fernandez-Duque, E, Kanthaswamy, S, Shiferaw, F, Wu, D, Zhou, L, Shao, Y, Zhang, G, Keyyu, J D, Knauf, S, Le, M D, Lizano, E, Merker, S, Navarro, A, Bataillon, T, Nadler, T, Khor, C C, Lee, J, Tan, P, Lim, W K, Kitchener, A C, Zinner, D, Gut, I, Melin, A, Guschanski, K, Schierup, M H, Beck, R M D, Umapathy, G, Roos, C, Boubli, J P, Lek, M, Sunyaev, S, O'Donnell-Luria, A, Rehm, H L, Xu, J, Rogers, J, Marques-Bonet, T & Farh, K K H 2023, ' The landscape of tolerated genetic variation in humans and primates ', Science (New York, N.Y.), vol. 380, no. 6648, abn8197 . https://doi.org/10.1126/science.abn8197
bioRxiv
Gao, H, Hamp, T, Ede, J, Schraiber, J G, McRae, J, Singer-Berk, M, Yang, Y, Dietrich, A S D, Fiziev, P P, Kuderna, L F K, Sundaram, L, Wu, Y, Adhikari, A, Field, Y, Chen, C, Batzoglou, S, Aguet, F, Lemire, G, Reimers, R, Balick, D, Janiak, M C, Kuhlwilm, M, Orkin, J D, Manu, S, Valenzuela, A, Bergman, J, Rousselle, M, Silva, F E, Agueda, L, Blanc, J, Gut, M, de Vries, D, Goodhead, I, Harris, R A, Raveendran, M, Jensen, A, Chuma, I S, Horvath, J E, Hvilsom, C, Juan, D, Frandsen, P, de Melo, F R, Bertuol, F, Byrne, H, Sampaio, I, Farias, I, do Amaral, J V, Messias, M, da Silva, M N F, Trivedi, M, Rossi, R, Hrbek, T, Andriaholinirina, N, Rabarivola, C J, Zaramody, A, Jolly, C J, Phillips-Conroy, J, Wilkerson, G, Abee, C, Simmons, J H, Fernandez-Duque, E, Kanthaswamy, S, Shiferaw, F, Wu, D, Zhou, L, Shao, Y, Zhang, G, Keyyu, J D, Knauf, S, Le, M D, Lizano, E, Merker, S, Navarro, A, Bataillon, T, Nadler, T, Khor, C C, Lee, J, Tan, P, Lim, W K, Kitchener, A C, Zinner, D, Gut, I, Melin, A, Guschanski, K, Schierup, M H, Beck, R M D, Umapathy, G, Roos, C, Boubli, J P, Lek, M, Sunyaev, S, O'Donnell-Luria, A, Rehm, H L, Xu, J, Rogers, J, Marques-Bonet, T & Farh, K K H 2023, ' The landscape of tolerated genetic variation in humans and primates ', Science (New York, N.Y.), vol. 380, no. 6648 . https://doi.org/10.1126/science.abn8197

مصطلحات موضوعية: Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40093f4fd8bf53afb92b2b17f54d2dc5
https://doi.org/10.1101/2023.05.01.538953

المؤلفون: Petko Fiziev, Jeremy McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang, Pierrick Wainschtein, Zijian Ni, Joshua G. Schraiber, Hong Gao, Dylan Cable, Yair Field, Francois Aguet, Marc Fasnacht, Ahmed Metwally, Jeffrey Rogers, Tomas Marques-Bonet, Heidi L. Rehm, Anne O’Donnell-Luria, Amit V. Khera, Kyle Kai-How Farh

المصدر: medRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15dd56c1a31aa4f239fad0b89c32d801
https://doi.org/10.1101/2023.05.01.23289356

المؤلفون: Kinya Seo, Jennifer Kim, Douglas Russo, David Jimenez-Morales, Lorenzo Cappello, Nathaniel Watson, Manuel A. Rivas, Archana Raja, Nathan Hammond, Marcelo Fernandez-Vina, Francis deSouza, Nathan Youlton, Steven G. Hershman, Kazutoyo Osoegawa, Olivier Delaneau, Shirley Sutton, Jessie T. Lauzon, Andra L. Blomkalns, Ruth O'Hara, Yongchan Kwon, Amy Kistler, Victoria N. Parikh, Yong Huang, Carlos Bustamante, Matthew T. Wheeler, Elizabeth Spiteri, Benjamin A. Pinsky, Jonasel Roque, Simone Rubinacci, Massa J. Shoura, Thanmayi Ranganath, Samuel Yang, John E. Gorzynski, Alina Isakova, Gary P. Schroth, Kyle Kai-How Farh, Yosuke Tanigawa, Ruchi Joshi, Hannah N. De Jong, Kalyan C. Mallempati, Catherine A. Blish, Christopher R. Hughes, Norma Neff, Justin Wong, Karan D. Bhatt, Sándor Szalma, Julia A. Palacios, Jimmy Zhen, Jack Kamm, Alexander G. Ioannidis, Anna Kirillova, Xiran Liu, Gonzalo Montero-Martín, Angela J. Rogers, Jeffrey W. Christle, David Amar, Maurizio Morri, Karen P. Dalton, Phil Febbo, Jaehee Kim, Victoria P. Cepeda-Espinoza, Sonia Moreno-Grau, Chunli Zhao, Christopher DeBoever, Euan A. Ashley, Kari C. Nadeau, Jacob Edelson, Daniel Mas Montserrat

مصطلحات موضوعية: Race (biology), Viral phylodynamics, Evolutionary biology, Metagenomics, Pandemic, Confounding, Genetic admixture, Microbiome, Biology, Genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aeee66778d9fd13a5991ed041ddf74c6
https://doi.org/10.1101/2021.08.04.21261547

المؤلفون: Jeffrey Rogers, Dietmar Zinner, Tilo Nadler, Chiea Chuen Khor, Muthuswamy Raveendran, Weng Khong Lim, Tomas Marques-Bonet, Kyle Kai-How Farh, Frank Marrone, Alejandro E. J. Valenzuela, C. Rabarivola, Minh Duc Le, Erich D. Jarvis, Govindhaswamy Umapathy, Joseph D. Orkin, Hasinala Ramangason, Andrew C. Kitchener, Nicole Volasoa Andriaholinirina, Dong-Dong Wu, Paramjit S. Arora, Ivo Gut, Amanda D. Melin, Lukas F. K. Kuderna, Sivakumara Manu, Esther Lizano, Alphonse Zaramody, Olivier Fedrigo, Guojie Zhang, Mareike C Janiak, R. Alan Harris, Patrick Tan, Arcadi Navarro, Steig E. Johnson, David Juan, Christian Roos, James P. Higham, Marta Gut, Jessica G. H. Lee, Julie E. Horvath

المساهمون: Natural Sciences and Engineering Research Council of Canada, Canada Research Chairs, Natural Environment Research Council (UK), Ministerio de Ciencia, Innovación y Universidades (España), Instituto de Salud Carlos III, Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), European Commission, Generalitat de Catalunya, Fundación 'la Caixa', Howard Hughes Medical Institute, National Institutes of Health (US), Rockefeller University, Melin, Amanda D. [0000-0002-0612-2514], Orkin, Joseph D. [0000-0001-6922-2072], Janiak, Mareike C. [0000-0002-7759-2556], Valenzuela, Alejandro [0000-0002-2252-3887], Kuderna, Lukas F. K. [0000-0002-9992-9295], Marrone, Frank [0000-0002-1735-0723], Ramangason, Hasinala [0000-0003-4222-7476], Horvath, Julie E. [0000-0002-6426-035X], Roos, Christian [0000-0003-0190-4266], Kitchener, Andrew C. [0000-0003-2594-0827], Khor, Chiea Chuen [0000-0002-1128-4729], Lim, Weng Khong [0000-0003-4391-1130], Umapathy, Govindhaswamy [0000-0003-4086-7445], Raveendran, Muthuswamy [0000-0001-6185-4059], Harris, R. Alan [0000-0002-7333-4752], Gut, Ivo [0000-0001-7219-632X], Gut, Marta [0000-0002-4063-7159], Lizano, Esther 0000-0003-3304-9807], Zinner, Dietmar [0000-0003-3967-8014], Manu, Sivakumara [0000-0002-9114-8793], Johnson, Steig E. [0000-0003-2257-8949], Fedrigo, Olivier [0000-0002-6450-7551], Farh, Kyle Kai-How [0000-0001-6947-8537], Rogers, Jeffrey [0000-0002-7374-6490], Marqués-Bonet, Tomàs [0000-0002-5597-3075], Navarro, Arcadi [0000-0003-2162-8246], Juan, David [0000-0003-1912-9667], Arora, Paramjit S. [0000-0001-5315-401X], Higham, James P. [0000-0002-1133-2030], Melin, Amanda D., Orkin, Joseph D., Janiak, Mareike C., Valenzuela, Alejandro, Kuderna, Lukas F. K., Marrone, Frank, Ramangason, Hasinala, Horvath, Julie E., Roos, Christian, Kitchener, Andrew C., Khor, Chiea Chuen, Lim, Weng Khong, Umapathy, Govindhaswamy, Raveendran, Muthuswamy, Harris, R. Alan, Gut, Ivo, Gut, Marta, Zinner, Dietmar, Manu, Sivakumara, Johnson, Steig E., Fedrigo, Olivier, Farh, Kyle Kai-How, Rogers, Jeffrey, Marqués-Bonet, Tomàs, Navarro, Arcadi, Juan, David, Arora, Paramjit S., Higham, James P.

المصدر: bioRxiv
article-version (status) pre
article-version (number) 1
American Journal of Primatology
Digital.CSIC. Repositorio Institucional del CSIC
instname
Melin, A D, Orkin, J D, Janiak, M C, Valenzuela, A, Kuderna, L, Marrone, F, Ramangason, H, Horvath, J E, Roos, C, Kitchener, A C, Khor, C C, Lim, W K, Lee, J G H, Tan, P, Umapathy, G, Raveendran, M, Alan Harris, R, Gut, I, Gut, M, Lizano, E, Nadler, T, Zinner, D, Le, M D, Manu, S, Rabarivola, C J, Zaramody, A, Andriaholinirina, N, Johnson, S E, Jarvis, E D, Fedrigo, O, Wu, D, Zhang, G, Farh, K K-H, Rogers, J, Marques-Bonet, T, Navarro, A, Juan, D, Arora, P S & Higham, J P 2021, ' Variation in predicted COVID-19 risk among lemurs and lorises ', American Journal of Primatology, vol. 83, no. 6, e23255 . https://doi.org/10.1002/ajp.23255

مصطلحات موضوعية: 0106 biological sciences, Propithecus, Endangered species, Lemur, Locus (genetics), COVID-19 (Malaltia), 010603 evolutionary biology, 01 natural sciences, Lèmurs, Article, Lorisidae, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, biology.animal, Animals, 0501 psychology and cognitive sciences, Primate, 030212 general & internal medicine, Taxonomic rank, 050102 behavioral science & comparative psychology, Clade, Ecology, Evolution, Behavior and Systematics, Research Articles, 030304 developmental biology, 0303 health sciences, Extinction, biology, Lorísids, 05 social sciences, Primate Diseases, COVID-19, biology.organism_classification, Evolutionary biology, Animal Science and Zoology, Angiotensin-Converting Enzyme 2, Genètica, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dddd4c872693116a1756f7a2bfc884b
http://europepmc.org/articles/PMC7872355

المؤلفون: Arwa Kathiria, Alexandro E. Trevino, Howard Y. Chang, Laksshman Sundaram, Sergiu P. Paşca, Anshul Kundaje, Anca M. Pasca, Kyle Kai-How Farh, Anna Shcherbina, William J. Greenleaf, Jimena Andersen, Fabian Müller

مصطلحات موضوعية: Regulation of gene expression, Glutamatergic, Corticogenesis, medicine.anatomical_structure, Cerebral cortex, Gene expression, medicine, Computational biology, Biology, Gene, Transcription factor, Chromatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41ec07061a251c1b51e9c34720360a62
https://doi.org/10.1101/2020.12.29.424636

المؤلفون: Martin Chian, Darcy Vavrek, Kyle Kai-How Farh, Phillip G. Febbo, John A. Moon, Eileen de Feo, Kristen Meier, Kirsten J. Curnow, Robert Ragusa

مصطلحات موضوعية: medicine.medical_specialty, True negative, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Positive predicative value, Public health, Disclaimer, Pooling, medicine, Operations management, Psychology, Turnaround time

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa7b0ec2189d4b96bd5a23f597807eed
https://doi.org/10.1101/2020.12.18.20248512

المؤلفون: Gonzalo Montero-Martín, Carlos Bustamante, Victoria N. Parikh, Manuel A. Rivas, Marcelo Fernandez-Vina, Amy Kistler, Shirley Sutton, David Amar, Yosuke Tanigawa, Matthew T. Wheeler, Kazutoyo Osoegawa, F Desouza, Christopher R. Hughes, Anna Kirillova, Archana Raja, Nathan Hammond, Norma Neff, Nathaniel Watson, Malaya K. Sahoo, Rob Bierman, Jack Kamm, Kyle Kai-How Farh, Phil Febbo, Ruchi Joshi, Simone Rubinacci, Alexander G. Ioannidis, Massa J. Shoura, Darren Liu, David Jimenez-Morales, Hannah N. De Jong, Euan A. Ashley, Jaehee Kim, Kinya Seo, Lorenzo Cappello, Kalyan C. Mallempati, John E. Gorzynski, Julia Salzman, Julia A. Palacios, Jeffrey W. Christle, Gary P. Schroth, Olivier Delaneau, Benjamin A. Pinsky, ChunHong Huang

المصدر: medRxiv

مصطلحات موضوعية: Transcriptome, Host genome, Genomic data, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Human leukocyte antigen, Computational biology, Biology, Genome, Throughput (business), Pathogen, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b267b8364e4bf3503b9203dee6443c39
https://europepmc.org/articles/PMC7402057/

المؤلفون: Stephen Sanders, Kyle Kai-How Farh, Grace Schwartz

المصدر: Genome medicine, vol 12, iss 1
Genome Medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: 0301 basic medicine, Gene splicing, Isoform, lcsh:QH426-470, Developmental delay, RNA Splicing, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, lcsh:Medicine, Computational biology, Cryptic splice site, 03 medical and health sciences, 0302 clinical medicine, Genetics, Medicine, Humans, 2.1 Biological and endogenous factors, splice, Antisense oligonucleotide, Autism spectrum disorder, Aetiology, Molecular Biology, Genetics (clinical), Exome sequencing, SpliceAI, business.industry, lcsh:R, Comment, Human Genome, Neurosciences, Polypyrimidine tract, medicine.disease, Canonical splice site, Human genetics, Brain Disorders, Clinical exome sequencing, lcsh:Genetics, 030104 developmental biology, Neurodevelopmental Disorders, 030220 oncology & carcinogenesis, Antisense oligonucleotides, RNA splicing, Molecular Medicine, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972d907a32cd90467040bea293d27956
https://escholarship.org/uc/item/0s11z78z

المؤلفون: Howard Y. Chang, Laksshman Sundaram, Kyle Kai-How Farh, Anshul Kundaje, Sergiu P. Pașca, Alexandro E. Trevino, Anca M. Pașca, Anna Shcherbina, Fabian Müller, Jimena Andersen, Arwa Kathiria, William J. Greenleaf

المصدر: Cell. 184:5053-5069.e23

مصطلحات موضوعية: Cell, Computational biology, Regulatory Sequences, Nucleic Acid, Biology, General Biochemistry, Genetics and Molecular Biology, Epigenesis, Genetic, Deep Learning, Fuzzy Logic, Glutamates, Gene expression, medicine, Cluster Analysis, Humans, Cell Lineage, Gene, Transcription factor, Cerebral Cortex, Neurons, Regulation of gene expression, Gene Expression Regulation, Developmental, Cell Differentiation, Chromatin, Corticogenesis, medicine.anatomical_structure, Cerebral cortex, Astrocytes, Mutation, Single-Cell Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d657e24f7da35f7fc26d69517cb077
https://doi.org/10.1016/j.cell.2021.07.039

المؤلفون: Rob Mariman, Jo Knight, Charlie W. Lees, Ann-Stephan Gori, Mahmoud Elansary, Michel Georges, Gabrielle Boucher, Isabelle Cleynen, Rinse K. Weersma, Talin Haritunians, John D. Rioux, Suzanne van Sommeren, Valérie Deffontaine, Mauro D'Amato, Theo Meuwissen, Philippe Goyette, Hailiang Huang, Richard H. Duerr, François Crins, Ming Fang, Emilie Theatre, Andre Franke, Julia Dmitrieva, Maša Umićević Mirkov, Severine Vermeire, Gosia Trynka, Myriam Mni, Elisa Docampo, Judy H. Cho, Yukihide Momozawa, Edouard Louis, Jack Satsangi, Adrian Cortes, Ian C. Lawrance, Christopher G Mathew, Dermot P.B. McGovern, Jeffrey C. Barrett, Mark J. Daly, Kyle Kai-How Farh, Sarah L. Spain, Vibeke Andersen, Luke Jostins, Miles Parkes, Ramnik J. Xavier, Jonas Halfvarson, Carl A. Anderson

المساهمون: Parkes, Miles [0000-0002-6467-0631], Apollo - University of Cambridge Repository, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: Huang, H, Fang, M, Jostins, L, Umićević Mirkov, M, Boucher, G, Anderson, C A, Andersen, V, Cleynen, I, Cortes, A, Crins, F, D'Amato, M, Deffontaine, V, Dmitrieva, J, Docampo, E, Elansary, M, Farh, K K-H, Franke, A, Gori, A-S, Goyette, P, Halfvarson, J, Haritunians, T, Knight, J, Lawrance, I C, Lees, C W, Louis, E, Mariman, R, Meuwissen, T, Mni, M, Momozawa, Y, Parkes, M, Spain, S L, Théâtre, E, Trynka, G, Satsangi, J, van Sommeren, S, Vermeire, S, Xavier, R J, Weersma, R K, Duerr, R H, Mathew, C G, Rioux, J D, McGovern, D P B, Cho, J H, Georges, M & Daly, M J & Barrett, J C 2017, ' Fine-mapping inflammatory bowel disease loci to single-variant resolution ', Nature, vol. 547, no. 7662, pp. 173-178 . https://doi.org/10.1038/nature22969
Huang, H, Fang, M, Jostins, L, Umićević Mirkov, M, Boucher, G, Anderson, C A, Andersen, V, Cleynen, I, Cortes, A, Crins, F, D'Amato, M, Deffontaine, V, Dmitrieva, J, Docampo, E, Elansary, M, Farh, K K-H, Franke, A, Gori, A-S, Goyette, P, Halfvarson, J, Haritunians, T, Knight, J, Lawrance, I C, Lees, C W, Louis, E, Mariman, R, Meuwissen, T, Mni, M, Momozawa, Y, Parkes, M, Spain, S L, Théâtre, E, Trynka, G, Satsangi, J, van Sommeren, S, Vermeire, S, Xavier, R J, Weersma, R K, Duerr, R H, Mathew, C G, Rioux, J D, McGovern, D P B, Cho, J H, Georges, M, Daly, M J, Barrett, J C & International Inflammatory Bowel Disease Genetics Consortium 2017, ' Fine-mapping inflammatory bowel disease loci to single-variant resolution ', Nature, vol. 547, no. 7662, pp. 173-178 . https://doi.org/10.1038/nature22969
Nature, 547(7662), 173-178. Nature Publishing Group
Nature
2017, ' Fine-mapping inflammatory bowel disease loci to single-variant resolution ', NATURE, vol. 547, no. 7662, pp. 173-178 . https://doi.org/10.1038/nature22969

مصطلحات موضوعية: 0301 basic medicine, Male, Linkage disequilibrium, Genome-wide association study, Disease, Inflammatory bowel disease, Linkage Disequilibrium, Epigenesis, Genetic, Crohn Disease, GENE-EXPRESSION, Genetics, Aged, 80 and over, Multidisciplinary, COMMON VARIANTS, Middle Aged, Ulcerative colitis, Chromatin, CROHNS-DISEASE, 3. Good health, ULCERATIVE-COLITIS, RARE VARIANTS, Medical genetics, Female, LOW-FREQUENCY, Adult, medicine.medical_specialty, Adolescent, Genotype, SUSCEPTIBILITY LOCI, Quantitative Trait Loci, Biology, Article, 03 medical and health sciences, Young Adult, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Smad3 Protein, GENOME-WIDE ASSOCIATION, Genotyping, Genetic association, Aged, Binding Sites, COMPLEX TRAITS, Genetic Variation, medicine.disease, Inflammatory Bowel Diseases, 030104 developmental biology, Colitis, Ulcerative, ILLUMINA MICROARRAY, Genome-Wide Association Study, Transcription Factors

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e5320b4e9720fcb8233feefd083e4a
https://hdl.handle.net/11370/c44d1952-4ce6-4ae5-9286-e942c7d078f6

المؤلفون: Karen E. Knudsen, Nupam P. Mahajan, Housheng Hansen He, Martin Sjöström, Kathleen E. Houlahan, Jianhua Luo, S. Laura Chang, Meng Zhang, Kim N. Chi, Paul C. Boutros, Joseph F. Costello, Adam Foye, Denise Playdle, Lawrence Fong, M. Yvonne Kim, Serafim Batzoglou, Martin E. Gleave, Rahul Aggarwal, Li Zhang, Eric D. Chow, Scott A. Tomlins, Felix Y. Feng, Jiaoti Huang, Franklin W. Huang, Hui Li, Haolong Li, George Thomas, Junjie Tony Hua, Irfan A. Asangani, Marc D. Perry, Ha X. Dang, Todd M. Morgan, Robert E. Reiter, Alexander W. Wyatt, Shahneen Sandhu, Amina Zoubeidi, Christopher G. Maher, Daniel E. Spratt, Tanushree R. Shenoy, Luke A. Gilbert, Arul M. Chinnaiyan, Joshi J. Alumkal, Scott M. Dehm, Phillip G. Febbo, Primo N. Lara, Tomasz M. Beer, Adina M. Bailey, Rajdeep Das, Owen N. Witte, Alan Ashworth, Lisa N. Chesner, Joshua M. Lang, Mohammed Alshalalfa, Eric J. Small, Rohit Bose, Wilbert Zwart, David A. Quigley, Christopher P. Evans, Arnold Liao, Shuang G. Zhao, Yu Jia Shiah, Kyle Kai-How Farh, Hani Goodarzi, Travis J. Barnard, William S. Chen, Rendong Yang, Jonathan Chou, Ruhollah Moussavi-Baygi, Matthew Rettig

المصدر: Nature genetics
Nature genetics, vol 52, iss 8

مصطلحات موضوعية: Epigenomics, Male, Carcinogenesis, Bisulfite sequencing, medicine.disease_cause, Somatic evolution in cancer, Medical and Health Sciences, Whole Exome Sequencing, 0302 clinical medicine, 80 and over, 2.1 Biological and endogenous factors, Prospective Studies, Aetiology, Exome sequencing, Cancer, Regulation of gene expression, Aged, 80 and over, 0303 health sciences, Genome, Prostate Cancer, Methylation, Biological Sciences, Middle Aged, Gene Expression Regulation, Neoplastic, DNA methylation, Sequence Analysis, Biotechnology, Urologic Diseases, Biology, Article, 03 medical and health sciences, Exome Sequencing, medicine, Genetics, Humans, 030304 developmental biology, Aged, Neoplastic, Whole Genome Sequencing, Human Genome, Prostatic Neoplasms, DNA, Sequence Analysis, DNA, DNA Methylation, Gene Expression Regulation, Mutation, Cancer research, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f76e9da3c06333592aa417976e6aa5a6
https://pubmed.ncbi.nlm.nih.gov/32661416

المؤلفون: Robin C. Friedman, Kyle Kai-how Farh, Christopher B. Burge, Email Alerting, David P. Bartel

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://salamander.uky.edu/srvoss/bio425sp09/Papers/Friedman_et_al_2009.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.328.309; http://salamander.uky.edu/srvoss/bio425sp09/Papers/Friedman_et_al_2009.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.328.309
http://salamander.uky.edu/srvoss/bio425sp09/Papers/Friedman_et_al_2009.pdf

المؤلفون: Eric J. Small, Lawrence Fong, Karen E. Knudsen, Brad Sickler, Robert E. Reiter, Charles J. Ryan, Theodore C. Goldstein, Tomasz M. Beer, Martin E. Gleave, Rahul Aggarwal, Julian S. Gehring, Rajdeep Das, John Shon, Scott M. Dehm, Alan Ashworth, David A. Quigley, Ha X. Dang, Terence W. Friedlander, R. Keira Cheetham, Denise Playdle, Paul Lloyd, Serafim Batzoglou, Jack F. Youngren, Jin Zhang, Nathan A. Lack, Adam Foye, Felix Y. Feng, Jörg Hakenberg, Adina M. Bailey, Owen N. Witte, Abhijit Parolia, Scott A. Tomlins, Travis J. Barnard, Donavan T. Cheng, Jiaoti Huang, Li Zhang, P. G. Febbo, Alexander W. Wyatt, Kim N. Chi, Matthew Rettig, Vishal Kothari, Daniel E. Spratt, Housheng Hansen He, Haolong Li, George Thomas, Arnold Liao, Shuang G. Zhao, Hui Li, Joshua M. Stuart, Won Kim, Primo N. Lara, Christopher G. Maher, Jonathan Chou, Joshi J. Alumkal, Amina Zoubeidi, Marc D. Perry, Ruhollah Moussavi-Baygi, Luke A. Gilbert, Arul M. Chinnaiyan, Christopher P. Evans, Hani Goodarzi, Marcin Cieslik, Kyle Kai-How Farh

المصدر: Cell, vol 174, iss 3
Quigley, DA; Dang, HX; Zhao, SG; Lloyd, P; Aggarwal, R; Alumkal, JJ; et al.(2018). Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer. Cell, 174(3), 758-769.e9. doi: 10.1016/j.cell.2018.06.039. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/796124qb

مصطلحات موضوعية: 0301 basic medicine, Male, castration resistant prostate cancer, Cell, medicine.disease_cause, Medical and Health Sciences, Androgen, Transcriptome, Prostate cancer, androgen receptor, Receptors, 80 and over, 2.1 Biological and endogenous factors, Exome, Neoplasm Metastasis, Aetiology, Cancer, Aged, 80 and over, Mutation, Chromothripsis, Prostate Cancer, Genomics, Middle Aged, Biological Sciences, Cyclin-Dependent Kinases, medicine.anatomical_structure, Receptors, Androgen, Tandem Repeat Sequences, whole-genome sequencing, Tandem exon duplication, Urologic Diseases, DNA Copy Number Variations, Prostate cancer cell, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Structural variation, Proto-Oncogene Proteins c-myc, 03 medical and health sciences, medicine, genomics, Genetics, Humans, metastases, Aged, BRCA2 Protein, Whole Genome Sequencing, Gene Expression Profiling, Human Genome, structural variation, Prostatic Neoplasms, gene fusion, medicine.disease, BRCA2, 030104 developmental biology, Genomic Structural Variation, Cancer research, tandem duplication, chromothripsis, Tumor Suppressor Protein p53, Carcinogenesis, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1928a409b1341bcafb393804416865b5
https://escholarship.org/uc/item/796124qb

المؤلفون: Maxwell R. Mumbach, Nicki Naddaf, Theodore L. Roth, Nicolas Bray, Ruize Liu, Chun Jimmie Ye, K. Mark Ansel, Graham J. Ray, Mark S. Anderson, Dmytro Lituiev, Benjamin G. Gowen, Zhongmei Li, Therese Mitros, John D. Gagnon, Kyle Kai-How Farh, Hong Ma, Jacob E. Corn, Eric Boyer, Hailiang Huang, Youjin Lee, William J. Greenleaf, Rachel E. Gate, Victoria Tobin, Julia S. Chu, Meena Subramaniam, Ansuman T. Satpathy, Kathrin Schumann, Gemma L. Curie, Alexander Marson, Alice Y. Chan, Jonathan M. Woo, Mandy Boontanrart, Mark J. Daly, Michelle L.T. Nguyen, Frédéric Van Gool, Dimitre R. Simeonov, Howard Y. Chang, Jeffrey A. Bluestone

المصدر: Nature. 559(7715)

مصطلحات موضوعية: Genetics, Multidisciplinary, T cell, Stimulation, Single-nucleotide polymorphism, Biology, Phenotype, Article, Immune system, medicine.anatomical_structure, Genotype, medicine, SNP, Enhancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daab57aa610b3723cc39edf7c3e3365b
https://pubmed.ncbi.nlm.nih.gov/28854172

المؤلفون: David A. Knowles, Kishore Jaganathan, Yang I. Li, Amirali Kia, Sofia Kyriazopoulou Panagiotopoulou, Eric D. Chow, Serafim Batzoglou, Hong Gao, Stephen Sanders, Kyle Kai-How Farh, Jack A. Kosmicki, Efstathios Kanterakis, Juan Arbelaez, Siavash Fazel Darbandi, Jeremy F. McRae, Wenwu Cui, Grace Schwartz

المصدر: Cell. 176(3)

مصطلحات موضوعية: RNA Splicing, Population, Computational biology, Disease, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Deep Learning, Intellectual Disability, Intellectual disability, medicine, RNA Precursors, Humans, splice, Autistic Disorder, education, 030304 developmental biology, Sequence (medicine), 0303 health sciences, education.field_of_study, business.industry, Deep learning, Exons, medicine.disease, Introns, Alternative Splicing, RNA splicing, Autism, Artificial intelligence, Neural Networks, Computer, RNA Splice Sites, business, 030217 neurology & neurosurgery, Algorithms, Forecasting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49661f45508993cd433701aaa47fb02
https://pubmed.ncbi.nlm.nih.gov/30683891

المؤلفون: Felix R. Day, Yukinori Okada, Verneri Anttila, Brendan Bulik-Sullivan, Yakir A. Reshef, Chongzhi Zang, Eli A. Stahl, Alkes L. Price, Sara Lindström, Benjamin M. Neale, Hilary K. Finucane, Shaun Purcell, Nick Patterson, Han Xu, Po-Ru Loh, Alexander Gusev, Gosia Trynka, Soumya Raychaudhuri, Mark J. Daly, Kyle Kai-How Farh, Stephan Ripke, John R. B. Perry

المساهمون: Internal Medicine, Epidemiology, Obstetrics & Gynecology

المصدر: Nature genetics
Nature Genetics, 47(11), 1228-1235. Nature Publishing Group

مصطلحات موضوعية: Male, Inheritance Patterns, Genome-wide association study, Computational biology, Biology, Methylation, Polymorphism, Single Nucleotide, Genome, Genetic correlation, Article, Histones, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, Humans, Computer Simulation, Disease, Genetic Predisposition to Disease, 030304 developmental biology, Genetic association, 0303 health sciences, Models, Genetic, Lysine, Heritability, Regression, Sample size determination, Female, Algorithms, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e5e7f4c763966085089aed905924da
https://doi.org/10.1038/ng.3404

المؤلفون: Nondas Fritzilas, Jinbo Xu, Yanjun Li, Hong Gao, Laksshman Sundaram, Jeremy F. McRae, Samskruthi Reddy Padigepati, John Shon, Jack A. Kosmicki, Xiaolin Li, Serafim Batzoglou, Kyle Kai-How Farh, Anindita Dutta, Jörg Hakenberg

المصدر: Nature genetics. 50(8)

مصطلحات موضوعية: 0301 basic medicine, Primates, medicine.medical_specialty, Candidate gene, Population, Computational biology, Biology, medicine.disease_cause, Genome, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Animals, Humans, Exome, Genetic Predisposition to Disease, education, Exome sequencing, education.field_of_study, Mutation, Genome, Human, 030104 developmental biology, Medical genetics, Human genome, Nerve Net

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8773309c786e3ac69ab6501f12163a5e
https://pubmed.ncbi.nlm.nih.gov/30559491

المؤلفون: Ansuman T. Satpathy, K. Mark Ansel, Nicolas Bray, Jeffrey A. Bluestone, Alice Y. Chan, Graham J. Ray, Dimitre R. Simeonov, Kyle Kai-How Farh, Theodore L. Roth, Zhongmei Li, Michelle L.T. Nguyen, Mark J. Daly, William J. Greenleaf, Kathrin Schumann, Gemma L. Curie, Mark S. Anderson, Ruize Liu, Chun Jimmie Ye, Howard Y. Chang, Alexander Marson, Dmytro Lituiev, Therese Mitros, Nicki Naddaf, Jacob E. Corn, Victoria Tobin, Meena Subramaniam, Maxwell R. Mumbach, Hailiang Huang, Benjamin G. Gowen, Rachel E. Gate, Julia S. Chu, John D. Gagnon, Hong Ma, Frédéric Van Gool, Youjin Lee, Eric Boyer, Jonathan M. Woo, Mandy Boontanrart

المصدر: Nature, vol 549, iss 7670

مصطلحات موضوعية: Antigens, Differentiation, T-Lymphocyte, 0301 basic medicine, Enhancer Elements, General Science & Technology, Cellular differentiation, Receptors, Antigen, T-Cell, Enhancer RNAs, Autoimmunity, Computational biology, Biology, Autoimmune Disease, Cell Line, 03 medical and health sciences, Mice, Genetic, Antigens, CD, Lectins, Receptors, Genetics, Enhancer trap, CRISPR, Animals, Humans, Lectins, C-Type, Clustered Regularly Interspaced Short Palindromic Repeats, Antigens, Enhancer, Gene, Regulation of gene expression, Multidisciplinary, C-Type, Human Genome, Interleukin-2 Receptor alpha Subunit, Cell Differentiation, T-Cell, Chromatin, CD, Enhancer Elements, Genetic, 030104 developmental biology, T-Lymphocyte, Gene Expression Regulation, Antigen, Differentiation, Th17 Cells, Female, CRISPR-Cas Systems

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67bd4330f085a76ad425b15ed30679cd
https://escholarship.org/uc/item/89t84794