High-frequency actionable pathogenic exome variants in an average-risk cohort.
Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.
Oncotarget
Enyedi, Márton Zsolt ; Jaksa, Gábor G; Pintér, Lajos L; Sükösd, Farkas F; Gyuris, Zoltán Z; Hajdu, Adrienn A; Határvölgyi, Erika E; Priskin, Katalin K; Haracska, Lajos L
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.
Plos One
Strom, Charles M CM; Rivera, Steven S; Elzinga, Christopher C; Angeloni, Taraneh T; Rosenthal, Sun Hee SH; Goos-Root, Dana D; Siaw, Martin M; Platt, Jamie J; Braastadt, Cory C; Cheng, Linda L; Ross, David D; Sun, Weimin W