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

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

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; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

Examining the role of common variants in rare neurodevelopmental conditions

研究常见变异在罕见神经发育障碍中的作用

Huang, Qin Qin; Wigdor, Emilie M; Malawsky, Daniel S; Campbell, Patrick; Samocha, Kaitlin E; Chundru, V Kartik; Danecek, Petr; Lindsay, Sarah; Marchant, Thomas; Koko, Mahmoud; Amanat, Sana; Bonfanti, Davide; Sheridan, Eamonn; Radford, Elizabeth J; Barrett, Jeffrey C; Wright, Caroline F; Firth, Helen V; Warrier, Varun; Strudwick Young, Alexander; Hurles, Matthew E; Martin, Hilary C

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

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

蛋白质结构域中单氨基酸分辨率的遗传约束能够提高错义变异的优先级排序和基因发现效率。

Zhang, Xiaolei; Theotokis, Pantazis I; Li, Nicholas; Wright, Caroline F; Samocha, Kaitlin E; Whiffin, Nicola; Ware, James S

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

研究常见顺式调控变异在改变潜在有害遗传变异在严重神经发育障碍中的外显率方面的作用

Wigdor, Emilie M; Samocha, Kaitlin E; Eberhardt, Ruth Y; Chundru, V Kartik; Firth, Helen V; Wright, Caroline F; Hurles, Matthew E; Martin, Hilary C

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

英国和爱尔兰罕见儿科疾病的基因组诊断

Wright, Caroline F; Campbell, Patrick; Eberhardt, Ruth Y; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J; Chundru, V Kartik; Lindsay, Sarah J; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E; Middleton, Anna; Foreman, Julia; Hobson, Rachel J; Parker, Michael J; Martin, Hilary C; FitzPatrick, David R; Hurles, Matthew E; Firth, Helen V

A cross-disorder dosage sensitivity map of the human genome

人类基因组的跨疾病剂量敏感性图谱

Collins, Ryan L; Glessner, Joseph T; Porcu, Eleonora; Lepamets, Maarja; Brandon, Rhonda; Lauricella, Christopher; Han, Lide; Morley, Theodore; Niestroj, Lisa-Marie; Ulirsch, Jacob; Everett, Selin; Howrigan, Daniel P; Boone, Philip M; Fu, Jack; Karczewski, Konrad J; Kellaris, Georgios; Lowther, Chelsea; Lucente, Diane; Mohajeri, Kiana; Nõukas, Margit; Nuttle, Xander; Samocha, Kaitlin E; Trinh, Mi; Ullah, Farid; Võsa, Urmo; Hurles, Matthew E; Aradhya, Swaroop; Davis, Erica E; Finucane, Hilary; Gusella, James F; Janze, Aura; Katsanis, Nicholas; Matyakhina, Ludmila; Neale, Benjamin M; Sanders, David; Warren, Stephanie; Hodge, Jennelle C; Lal, Dennis; Ruderfer, Douglas M; Meck, Jeanne; Mägi, Reedik; Esko, Tõnu; Reymond, Alexandre; Kutalik, Zoltán; Hakonarson, Hakon; Sunyaev, Shamil; Brand, Harrison; Talkowski, Michael E