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

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

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

对 20979 名癫痫患者的外显子组测序揭示了不同疾病亚型之间共同的和独特的超罕见遗传风险

Chen, Siwei; Abou-Khalil, Bassel W; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J; Busch, Robyn M; Caglayan, S Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O; Cole, Andrew J; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J; Davis, Lea K; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dickerson, Faith; Dlugos, Dennis J; Doccini, Viola; Doherty, Colin P; El-Naggar, Hany; Ellis, Colin A; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N; Da Silva, Izabela Ferreira; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A; Freri, Elena; Fu, Jack M; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A; Goldberg, Ethan; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Grant, Riley; Greenberg, David A; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S; Kurlemann, Gerhard; Kuzniecky, Ruben I; Kwan, Patrick; La Vega-Talbott, Maite; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L; Lehesjoki, Anna-Elina; Lemke, Johannes R; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H T; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G; Matthews, Abigail G; May, Patrick; Mayer, Thomas; McArdle, Wendy; McCarroll, Steven M; McGoldrick, Patricia; McGraw, Christopher M; McIntosh, Andrew; McQuillan, Andrew; Meador, Kimford J; Mei, Davide; Michel, Véronique; Millichap, John J; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A; Newton, Charles R J C; Noebels, Jeffrey L; Northstone, Kate; Novod, Sam; O'Brien, Terence J; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B; Petrovski, Slavé; Pickrell, William O; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H W; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R; Rees, Mark I; Regan, Brigid M; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J; Scheffer, Ingrid E; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C; Shiedley, Beth R; Siena, S Anthony; Sills, Graeme J; Sisodiya, Sanjay M; Smoller, Jordan W; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R; Sperling, Michael R; Stamberger, Hannah; Steinhoff, Bernhard J; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Taneja, Randip S; Tanteles, George A; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G; Watts, Nick; Weber, Yvonne G; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

作者更正:突变约束谱是基于141,456名人类的变异量化的。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

附录:基于141,456名人类变异量化的突变约束谱

Gudmundsson, Sanna; Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

The mutational constraint spectrum quantified from variation in 141,456 humans

通过对 141,456 名人类的变异进行量化,确定了突变约束谱。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Simultaneous generation of many RNA-seq libraries in a single reaction

在单次反应中同时生成多个RNA-seq文库

Shishkin, Alexander A; Giannoukos, Georgia; Kucukural, Alper; Ciulla, Dawn; Busby, Michele; Surka, Christine; Chen, Jenny; Bhattacharyya, Roby P; Rudy, Robert F; Patel, Milesh M; Novod, Nathaniel; Hung, Deborah T; Gnirke, Andreas; Garber, Manuel; Guttman, Mitchell; Livny, Jonathan