未登录 Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights Silver, Ari; Lazarin, Gabriel A.; Silver, Maxwell; Miller, Meghan; Jansen, Michael; Wechsberg, Christine; Dekanek, Erin; Grossfeld, Stav; Herpel, Tim; Gunatilake, Dinura; Bisignano, Alexander; Jaremko, Malgorzata 分享 收藏
NGS detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a preventative genomics assay Miller, Meghan; Jansen, Michael; Silver, Maxwell; Wechsberg, Christine; Gunatilake, Dinura; Pilipenka, Natalia; Herpel, Timothy; Gomezcoello, John; Pons, Anthony; DePippa, Jessica; Silver, Ari; Lazarin, Gabriel; Bisignano, Alexander; Jaremko, Malgorzata 分享 收藏
Technical performance of a 455-gene preventative genomics assay Silver, Ari; Lazarin, Gabriel; Jansen, Michael; Silver, Maxwell; Miller, Meghan; Wechsberg, Christine; Dekanek, Erin; Grossfeld, Stav; Herpel, Timothy; Davis, Michelle; Gunatilake, Dinura; Bisignano, Alexander; Jaremko, Malgorzata 分享 收藏
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Systematic design and comparison of expanded carrier screening panels Beauchamp, Kyle A.; Muzzey, Dale; Wong, Kenny K.; Hogan, Gregory J.; Karimi, Kambiz; Candille, Sophie I.; Mehta, Nikita; Mar-Heyming, Rebecca; Kaseniit, K. Eerik; Kang, H. Peter; Evans, Eric A.; Goldberg, James D.; Lazarin, Gabriel A.; Haque, Imran S. 分享 收藏
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An empirical estimate of carrier frequencies for 400+causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals Lazarin, Gabriel A.; Haque, Imran S.; Nazareth, Shivani; Iori, Kevin; Patterson, A. Scott; Jacobson, Jessica L.; Marshall, John R.; Seltzer, William K.; Patrizio, Pasquale; Evans, Eric A.; Srinivasan, Balaji S. 分享 收藏
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