日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

The Global Parkinson's Disease Genetics (GP2) Genome Browser

全球帕金森病遗传学(GP2)基因组浏览器

Fang, Zih-Hua; Grant, Riley H; Vitale, Dan; Hernandez, Carlos F; Hong, Samantha; Leonard, Hampton L; Makarious, Mary B; Lange, Lara M; Solomonson, Matthew; Heutink, Peter; Dilliott, Allison A; Galvelis, Kamalini Ghosh; Nalls, Mike A; Singleton, Andrew B; Blauwendraat, Cornelis

A genomic mutational constraint map using variation in 76,156 human genomes

利用76156个人类基因组的变异构建基因组突变约束图谱

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; O'Donnell-Luria, Anne; Solomonson, Matthew; Seed, Cotton; Martin, Alicia R; Talkowski, Michael E; Rehm, Heidi L; Daly, Mark J; Tiao, Grace; Neale, Benjamin M; MacArthur, Daniel G; Karczewski, Konrad J

Inferring compound heterozygosity from large-scale exome sequencing data

从大规模外显子组测序数据推断复合杂合性

Guo, Michael H; Francioli, Laurent C; Stenton, Sarah L; Goodrich, Julia K; Watts, Nicholas A; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M; Hirschhorn, Joel N; Rehm, Heidi L; Daly, Mark J; O'Donnell-Luria, Anne; Karczewski, Konrad J; MacArthur, Daniel G; Samocha, Kaitlin E

Rare coding variants in ten genes confer substantial risk for schizophrenia

十个基因中的罕见编码变异会显著增加患精神分裂症的风险。

Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Al Eissa, Mariam; Barchas, Jack D; Bass, Nicholas; Bigdeli, Tim B; Breen, Gerome; Bromet, Evelyn J; Buckley, Peter F; Bunney, William E; Bybjerg-Grauholm, Jonas; Byerley, William F; Chapman, Sinéad B; Chen, Wei J; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline M; DeLisi, Lynn; Dodge, Sheila; Escamilla, Michael A; Eskelinen, Saana; Fanous, Ayman H; Faraone, Stephen V; Fiorentino, Alessia; Francioli, Laurent; Gabriel, Stacey B; Gage, Diane; Gagliano Taliun, Sarah A; Ganna, Andrea; Genovese, Giulio; Glahn, David C; Grove, Jakob; Hall, Mei-Hua; Hämäläinen, Eija; Heyne, Henrike O; Holi, Matti; Hougaard, David M; Howrigan, Daniel P; Huang, Hailiang; Hwu, Hai-Gwo; Kahn, René S; Kang, Hyun Min; Karczewski, Konrad J; Kirov, George; Knowles, James A; Lee, Francis S; Lehrer, Douglas S; Lescai, Francesco; Malaspina, Dolores; Marder, Stephen R; McCarroll, Steven A; McIntosh, Andrew M; Medeiros, Helena; Milani, Lili; Morley, Christopher P; Morris, Derek W; Mortensen, Preben Bo; Myers, Richard M; Nordentoft, Merete; O'Brien, Niamh L; Olivares, Ana Maria; Ongur, Dost; Ouwehand, Willem H; Palmer, Duncan S; Paunio, Tiina; Quested, Digby; Rapaport, Mark H; Rees, Elliott; Rollins, Brandi; Satterstrom, F Kyle; Schatzberg, Alan; Scolnick, Edward; Scott, Laura J; Sharp, Sally I; Sklar, Pamela; Smoller, Jordan W; Sobell, Janet L; Solomonson, Matthew; Stahl, Eli A; Stevens, Christine R; Suvisaari, Jaana; Tiao, Grace; Watson, Stanley J; Watts, Nicholas A; Blackwood, Douglas H; Børglum, Anders D; Cohen, Bruce M; Corvin, Aiden P; Esko, Tõnu; Freimer, Nelson B; Glatt, Stephen J; Hultman, Christina M; McQuillin, Andrew; Palotie, Aarno; Pato, Carlos N; Pato, Michele T; Pulver, Ann E; St Clair, David; Tsuang, Ming T; Vawter, Marquis P; Walters, James T; Werge, Thomas M; Ophoff, Roel A; Sullivan, Patrick F; Owen, Michael J; Boehnke, Michael; O'Donovan, Michael C; Neale, Benjamin M; Daly, Mark J

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

大规模测序鉴定出多个与克罗恩病易感性相关的基因和罕见变异

Sazonovs, Aleksejs; Stevens, Christine R; Venkataraman, Guhan R; Yuan, Kai; Avila, Brandon; Abreu, Maria T; Ahmad, Tariq; Allez, Matthieu; Ananthakrishnan, Ashwin N; Atzmon, Gil; Baras, Aris; Barrett, Jeffrey C; Barzilai, Nir; Beaugerie, Laurent; Beecham, Ashley; Bernstein, Charles N; Bitton, Alain; Bokemeyer, Bernd; Chan, Andrew; Chung, Daniel; Cleynen, Isabelle; Cosnes, Jacques; Cutler, David J; Daly, Allan; Damas, Oriana M; Datta, Lisa W; Dawany, Noor; Devoto, Marcella; Dodge, Sheila; Ellinghaus, Eva; Fachal, Laura; Farkkila, Martti; Faubion, William; Ferreira, Manuel; Franchimont, Denis; Gabriel, Stacey B; Ge, Tian; Georges, Michel; Gettler, Kyle; Giri, Mamta; Glaser, Benjamin; Goerg, Siegfried; Goyette, Philippe; Graham, Daniel; Hämäläinen, Eija; Haritunians, Talin; Heap, Graham A; Hiltunen, Mikko; Hoeppner, Marc; Horowitz, Julie E; Irving, Peter; Iyer, Vivek; Jalas, Chaim; Kelsen, Judith; Khalili, Hamed; Kirschner, Barbara S; Kontula, Kimmo; Koskela, Jukka T; Kugathasan, Subra; Kupcinskas, Juozas; Lamb, Christopher A; Laudes, Matthias; Lévesque, Chloé; Levine, Adam P; Lewis, James D; Liefferinckx, Claire; Loescher, Britt-Sabina; Louis, Edouard; Mansfield, John; May, Sandra; McCauley, Jacob L; Mengesha, Emebet; Mni, Myriam; Moayyedi, Paul; Moran, Christopher J; Newberry, Rodney D; O'Charoen, Sirimon; Okou, David T; Oldenburg, Bas; Ostrer, Harry; Palotie, Aarno; Paquette, Jean; Pekow, Joel; Peter, Inga; Pierik, Marieke J; Ponsioen, Cyriel Y; Pontikos, Nikolas; Prescott, Natalie; Pulver, Ann E; Rahmouni, Souad; Rice, Daniel L; Saavalainen, Päivi; Sands, Bruce; Sartor, R Balfour; Schiff, Elena R; Schreiber, Stefan; Schumm, L Philip; Segal, Anthony W; Seksik, Philippe; Shawky, Rasha; Sheikh, Shehzad Z; Silverberg, Mark S; Simmons, Alison; Skeiceviciene, Jurgita; Sokol, Harry; Solomonson, Matthew; Somineni, Hari; Sun, Dylan; Targan, Stephan; Turner, Dan; Uhlig, Holm H; van der Meulen, Andrea E; Vermeire, Séverine; Verstockt, Sare; Voskuil, Michiel D; Winter, Harland S; Young, Justine; Duerr, Richard H; Franke, Andre; Brant, Steven R; Cho, Judy; Weersma, Rinse K; Parkes, Miles; Xavier, Ramnik J; Rivas, Manuel A; Rioux, John D; McGovern, Dermot P B; Huang, Hailiang; Anderson, Carl A; Daly, Mark J

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

双相情感障碍的外显子组测序发现AKAP11是与精神分裂症共有的风险基因

Palmer, Duncan S; Howrigan, Daniel P; Chapman, Sinéad B; Adolfsson, Rolf; Bass, Nick; Blackwood, Douglas; Boks, Marco P M; Chen, Chia-Yen; Churchhouse, Claire; Corvin, Aiden P; Craddock, Nicholas; Curtis, David; Di Florio, Arianna; Dickerson, Faith; Freimer, Nelson B; Goes, Fernando S; Jia, Xiaoming; Jones, Ian; Jones, Lisa; Jonsson, Lina; Kahn, Rene S; Landén, Mikael; Locke, Adam E; McIntosh, Andrew M; McQuillin, Andrew; Morris, Derek W; O'Donovan, Michael C; Ophoff, Roel A; Owen, Michael J; Pedersen, Nancy L; Posthuma, Danielle; Reif, Andreas; Risch, Neil; Schaefer, Catherine; Scott, Laura; Singh, Tarjinder; Smoller, Jordan W; Solomonson, Matthew; Clair, David St; Stahl, Eli A; Vreeker, Annabel; Walters, James T R; Wang, Weiqing; Watts, Nicholas A; Yolken, Robert; Zandi, Peter P; Neale, Benjamin M

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

对英国生物银行394,841个外显子组中的数千种表型进行系统的单变异和基于基因的关联性检测

Karczewski, Konrad J; Solomonson, Matthew; Chao, Katherine R; Goodrich, Julia K; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M; Tsai, Ellen A; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S; Churchhouse, Claire; Howrigan, Daniel P; Zhou, Wei; Watts, Nicholas A; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D; Gupta, Namrata; MacArthur, Daniel G; Rehm, Heidi L; Seed, Cotton; Philippakis, Anthony A; Daly, Mark J; Davis, J Wade; Runz, Heiko; Miller, Melissa R; Neale, Benjamin M

Variant interpretation using population databases: Lessons from gnomAD

利用人群数据库进行变异解读:来自gnomAD的经验教训

Gudmundsson, Sanna; Singer-Berk, Moriel; Watts, Nicholas A; Phu, William; Goodrich, Julia K; Solomonson, Matthew; Rehm, Heidi L; MacArthur, Daniel G; O'Donnell-Luria, Anne

seqr: A web-based analysis and collaboration tool for rare disease genomics

seqr:一款基于网络的罕见病基因组学分析与协作工具

Pais, Lynn S; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R; Lemire, Gabrielle; Osei-Owusu, Ikeoluwa; VanNoy, Grace E; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Mano, Stacy; O'Leary, Melanie; Lovgren, Alysia; Babb, Lawrence; Austin-Tse, Christina A; Rehm, Heidi L; MacArthur, Daniel G; O'Donnell-Luria, Anne