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Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data 使用三外显子组测序数据破译先天性心脏病的双基因结构 Kars, Meltem Ece; Stein, David; Stenson, Peter D.; Cooper, David N.; Chung, Wendy K.; Gruber, Peter J.; Seidman, Christine E.; Shen, Yufeng; Tristani-Firouzi, Martin; Gelb, Bruce D.; Itan, Yuval 分享 收藏
Accurate identification fi cation of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework 通过将异质基因组数据整合到贝叶斯框架中，准确识别与脑部疾病相关的基因 He, Dan; Li, Ling; Zhang, Huasong; Liu, Feiyi; Li, Shaoying; Xiu, Xuehao; Fan, Cong; Qi, Mengling; Meng, Meng; Ye, Junping; Mort, Matthew; Stenson, Peter D.; Cooper, David N.; Zhao, Huiying 分享 收藏
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Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites 位于剪接分支点和典型剪接受体位点之间的人类内含子AG增益变体的全基因组检测 Zhang, Peng; Chaldebas, Matthieu; Ogishi, Masato; Al Qureshah, Fahd; Ponsin, Khoren; Feng, Yi; Rinchai, Darawan; Milisavljevic, Baptiste; Han, Ji Eun; Moncada-Velez, Marcela; Keles, Sevgi; Schroeder, Bernd; Stenson, Peter D.; Cooper, David N.; Cobat, Aurelie; Boisson, Bertrand; Zhang, Qian; Boisson-Dupuis, Stephanie; Abel, Laurent; Casanova, Jean- Laurent 分享 收藏
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients Wu, Yiming; Gettler, Kyle; Kars, Meltem Ece; Giri, Mamta; Li, Dalin; Bayrak, Cigdem Sevim; Zhang, Peng; Jain, Aayushee; Maffucci, Patrick; Sabic, Ksenija; Van Vleck, Tielman; Nadkarni, Girish; Denson, Lee A.; Ostrer, Harry; Levine, Adam P.; Schiff, Elena R.; Segal, Anthony W.; Kugathasan, Subra; Stenson, Peter D.; Cooper, David N.; Schumm, L. Philip; Snapper, Scott; Daly, Mark J.; Haritunians, Talin; Duerr, Richard H.; Silverberg, Mark S.; Rioux, John D.; Brant, Steven R.; McGovern, Dermot P. B.; Cho, Judy H.; Itan, Yuval 分享 收藏
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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections Fan, Cong; Chen, Ken; Wang, Yukai; Ball, Edward, V; Stenson, Peter D.; Mort, Matthew; Bacolla, Albino; Kehrer-Sawatzki, Hildegard; Tainer, John A.; Cooper, David N.; Zhao, Huiying 分享 收藏
Genome-wide detection of human variants that disrupt intronic branchpoints 破坏内含子分支点的人类变体的全基因组检测 Zhang, Peng; Philippot, Quentin; Ren, Weicheng; Lei, Wei-Te; Li, Juan; Stenson, Peter D.; Palacin, Pere Soler; Colobran, Roger; Boisson, Bertrand; Zhang, Shen-Ying; Puel, Anne; Pan-Hammarstrom, Qiang; Zhang, Qian; Cooper, David N.; Abel, Laurent; Casanova, Jean-Laurent 分享 收藏
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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants Bayrak, Cigdem Sevim; Stein, David; Jain, Aayushee; Chaudhary, Kumardeep; Nadkarni, Girish N.; Van Vleck, Tielman T.; Puel, Anne; Boisson-Dupuis, Stephanie; Okada, Satoshi; Stenson, Peter D.; Cooper, David N.; Schlessinger, Avner; Itan, Yuval 分享 收藏
The genetic structure of the Turkish population reveals high levels of variation and admixture 土耳其人口的遗传结构揭示了高水平的变异和混合 Kars, M. Ece; Basak, A. Nazli; Onat, O. Emre; Bilguvar, Kaya; Choi, Jungmin; Itan, Yuval; Caglar, Caner; Palvadeau, Robin; Casanova, Jean-Laurent; Cooper, David N.; Stenson, Peter D.; Yavuz, Alper; Bulus, Hakan; Gunel, Murat; Friedman, Jeffrey M.; Ozcelik, Tayfun 分享 收藏
Compensatory epistasis explored by molecular dynamics simulations Serrano, Catarina; Teixeira, Carla S. S.; Cooper, David N.; Carneiro, Joao; Lopes-Marques, Monica; Stenson, Peter D.; Amorim, Antonio; Prata, Maria J.; Sousa, Sergio F.; Azevedo, Luisa 分享 收藏
The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Chapman, Molly; Evans, Katy; Azevedo, Luisa; Hayden, Matthew; Heywood, Sally; Millar, David S.; Phillips, Andrew D.; Cooper, David N. 分享 收藏
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes 预测的功能丧失变体的常见纯合性揭示了可分配的人类基因的冗余和有利影响 Rausell, Antonio; Luo, Yufei; Lopez, Marie; Seeleuthner, Yoann; Rapaport, Franck; Favier, Antoine; Stenson, Peter D.; Cooper, David N.; Patin, Etienne; Casanova, Jean-Laurent; Quintana-Murci, Lluis; Abel, Laurent 分享 收藏
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature Birgmeier, Johannes; Haeussler, Maximilian; Deisseroth, Cole; Steinberg, Ethan H.; Jagadeesh, Karthik A.; Ratner, Alexander J.; Guturu, Harendra; Wenger, Aaron M.; Diekhans, Mark E.; Stenson, Peter D.; Cooper, David N.; Re, Christopher; Beggs, Alan H.; Bernstein, Jonathan; Bejerano, Gill 分享 收藏
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature Birgmeier, Johannes; Deisseroth, Cole A.; Hayward, Laura E.; Galhardo, Luisa M. T.; Tierno, Andrew P.; Jagadeesh, Karthik A.; Stenson, Peter D.; Cooper, David N.; Bernstein, Jonathan A.; Haeussler, Maximilian; Bejerano, Gill 分享 收藏
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