Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KCNQ1: 584G>A; Arg195Gln
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
American Journal Of Human Genetics
Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T
Publication Date: 2022-09-01
Variant appearance in text: KCNQ1: 584G>A; Arg195Gln
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Heart Rhythm
Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ
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