Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: HAL: 1472G>T; Gly491Val; rs141635447
Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.
Human Molecular Genetics
Teslovich, Tanya M TM; Kim, Daniel Seung DS; Yin, Xianyong X; Stancáková, Alena A; Jackson, Anne U AU; Wielscher, Matthias M; Naj, Adam A; Perry, John R B JRB; Huyghe, Jeroen R JR; Stringham, Heather M HM; Davis, James P JP; Raulerson, Chelsea K CK; Welch, Ryan P RP; Fuchsberger, Christian C; Locke, Adam E AE; Sim, Xueling X; Chines, Peter S PS; Narisu, Narisu N; Kangas, Antti J AJ; Soininen, Pasi P; , ; Ala-Korpela, Mika M; Gudnason, Vilmundur V; Musani, Solomon K SK; Jarvelin, Marjo-Riitta MR; Schellenberg, Gerard D GD; Speliotes, Elizabeth K EK; Kuusisto, Johanna J; Collins, Francis S FS; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
Plos One
Farlow, Janice L JL; Lin, Hai H; Sauerbeck, Laura L; Lai, Dongbing D; Koller, Daniel L DL; Pugh, Elizabeth E; Hetrick, Kurt K; Ling, Hua H; Kleinloog, Rachel R; van der Vlies, Pieter P; Deelen, Patrick P; Swertz, Morris A MA; Verweij, Bon H BH; Regli, Luca L; Rinkel, Gabriel J E GJ; Ruigrok, Ynte M YM; Doheny, Kimberly K; Liu, Yunlong Y; Broderick, Joseph J; Foroud, Tatiana T; ,
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L