المؤلفون: Collins, Ryan L, Brand, Harrison, Karczewski, Konrad J, Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C, Khera, Amit V, Lowther, Chelsea, Gauthier, Laura D, Wang, Harold, Watts, Nicholas A, Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W, Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R, Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M, Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D, Lin, Henry J, Rich, Stephen S, Post, Wendy S, Chen, Yii-Der Ida, Rotter, Jerome I, Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M, Kathiresan, Sekar, Daly, Mark J, Banks, Eric, MacArthur, Daniel G, Talkowski, Michael E

المصدر: Nature. 581(7809)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Generic health relevance, Disease, Female, Genetic Testing, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genotyping Techniques, Humans, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Racial Groups, Reference Standards, Selection, Genetic, Whole Genome Sequencing, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/25h6t9dpTest

المؤلفون: Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G, Exome Aggregation Consortium

المصدر: Nature. 536(7616)

مصطلحات موضوعية: Exome Aggregation Consortium, Humans, Rare Diseases, Proteome, Sample Size, DNA Mutational Analysis, Phenotype, Genetic Variation, Exome, Datasets as Topic, Clinical Research, Biotechnology, Human Genome, Genetics, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/04j4327sTest

المؤلفون: Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, Abreu, Maria, Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Armean, Irina M., Atkinson, Elizabeth G., Atzmon, Gil, Barnard, John, Baxter, Samantha M., Beaugerie, Laurent, Benjamin, Emelia J., Benjamin, David, Boehnke, Michael, Weersma, Rinse K.

المصدر: Genome Aggregation Database Consortium , Chen , S , Francioli , L C , Goodrich , J K , Collins , R L , Kanai , M , Wang , Q , Alföldi , J , Watts , N A , Vittal , C , Gauthier , L D , Poterba , T , Wilson , M W , Tarasova , Y , Phu , W , Grant , R , Yohannes , M T , Koenig , Z , Farjoun , Y , Banks , E , Donnelly , S , Gabriel , S , Gupta , N ....

مصطلحات موضوعية: Computational biology and bioinformatics, DNA sequencing, Evolutionary genetics, Genetic variation, Genotype

العلاقة: https://research.rug.nl/en/publications/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest

الإتاحة: https://doi.org/10.1038/s41586-024-07050-7Test
https://hdl.handle.net/11370/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest
https://research.rug.nl/en/publications/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest
http://www.scopus.com/inward/record.url?scp=85182477492&partnerID=8YFLogxKTest

المؤلفون: Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, O’Donnell-Luria, Anne H., Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Tiao, Grace, Tibbetts, Kathleen

المساهمون: Centre of Excellence in Complex Disease Genetics, Department of Medicine, Clinicum, Gastroenterologian yksikkö, HUS Abdominal Center, HUS Psychiatry, Department of Psychiatry, HUS Neurocenter, Department of Neurosciences, Institute for Molecular Medicine Finland, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, University Management, Biostatistics Helsinki, Biosciences, Genomics of Neurological and Neuropsychiatric Disorders, Aarno Palotie / Principal Investigator, Tampere University, Clinical Medicine, Department of Clinical Chemistry

المصدر: Nature
Minikel, E V, Karczewski, K J, Martin, H C, Cummings, B B, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, R C, van Heel, D A, Daly, M J, Alföldi, J, Armean, I M, Banks, E, Bergelson, L, Cibulskis, K, Collins, R L, Connolly, K M, Covarrubias, M, Cummings, B B, Daly, M J, Donnelly, S, Farjoun, Y, Ferriera, S, Francioli, L, Gabriel, S, Gauthier, L D, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Karczewski, K J, Laricchia, K M, Llanwarne, C, Minikel, E V, Munshi, R, Neale, B M, Novod, S, O’Donnell-Luria, A H, Petrillo, N, Poterba, T, Roazen, D, Ruano-Rubio, V, Saltzman, A, Samocha, K E, Schleicher, M, Seed, C, Solomonson, M & Soto, J & Tiao, G & Tibbetts, K 2020, ' Evaluating drug targets through human loss-of-function genetic variation ', Nature, vol. 581, no. 7809, pp. 459-464 . https://doi.org/10.1038/s41586-020-2267-zTest

مصطلحات موضوعية: Drug, FAMILIAL PRION DISEASE, PENETRANCE, media_common.quotation_subject, ved/biology.organism_classification_rank.species, PROTEIN, Computational biology, Biology, VARIANTS, Compound heterozygosity, AMYOTROPHIC-LATERAL-SCLEROSIS, Target validation, 03 medical and health sciences, 0302 clinical medicine, PARKINSONS-DISEASE, In vivo, Genetic variation, EPIDEMIOLOGY, Model organism, Gene, Loss function, 030304 developmental biology, media_common, 0303 health sciences, Multidisciplinary, ved/biology, MUTATIONS, 1184 Genetics, developmental biology, physiology, HUNTINGTONS-DISEASE GENE, Genomics, 3. Good health, PREVALENCE, Drug development, 3111 Biomedicine, 030217 neurology & neurosurgery, Analysis

وصف الملف: fulltext; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ce474477054ef9d4f8493d4843adc8Test
http://hdl.handle.net/10138/325140Test

المؤلفون: Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana

المساهمون: Imper, Rosetrees Trust, Wellcome Trust, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Institute for Molecular Medicine Finland, Biosciences, Genomics of Neurological and Neuropsychiatric Disorders, HUS Psychiatry, Department of Psychiatry, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Department of Public Health, Research Programme of Molecular Medicine, Aarno Palotie / Principal Investigator, Doctoral Programme in Social Sciences, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, University Management, Biostatistics Helsinki, Faculty of Medicine, University of Helsinki, Tampere University, Clinical Medicine, Department of Clinical Chemistry, BioMediTech, Fondation Leducq, Department of Health, Leducq Foundation for Cardiovascular Research, British Heart Foundation, Royal Brompton & Harefield NHS Foundation Trust

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Five prime untranslated region, General Physics and Astronomy, Genome informatics, Negative selection, 0302 clinical medicine, Loss of Function Mutation, Genetics research, Coding region, lcsh:Science, education.field_of_study, Multidisciplinary, 1184 Genetics, developmental biology, physiology, Genome Aggregation Database Production Team, Genomics, Multidisciplinary Sciences, Genome Aggregation Database (gnomAD) Consortium, Science & Technology - Other Topics, 5'-UNTRANSLATED REGIONS, Medical genomics, Genome Aggregation Database (gnomAD) Production Team, OPEN READING FRAMES, Science, Population, WOUDE, Computational biology, Biology, Article, General Biochemistry, Genetics and Molecular Biology, ORFS, Frameshift mutation, 03 medical and health sciences, Humans, Author Correction, education, Gene, Science & Technology, Base Sequence, Genome, Human, MUTATIONS, Genetic Variation, Proteins, General Chemistry, 030104 developmental biology, INITIATION CODON, Genome Aggregation Database Consortium, Human genome, lcsh:Q, 3111 Biomedicine, TRANSLATION, 5' Untranslated Regions, 030217 neurology & neurosurgery, VAN

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600861d7e3be0798966d620f7d7daf26Test
http://hdl.handle.net/10044/1/79435Test