Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

by Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
Published 2017-01-01

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

by Suzette Farber-Katz, Vickie Hsuan, Sitao Wu, Tyler Landrith, Huy Vuong, Dong Xu, Bing Li, Jayne Hoo, Stephanie Lam, Sarah Nashed, Deborah Toppmeyer, Phillip Gray, Ginger Haynes, Hsiao-Mei Lu, Aaron Elliott, Brigette Tippin Davis, Rachid Karam
Published 2018-07-01

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

by Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
Published 2020-02-01