Article
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2017
Ghazani Arezou A, Oliver Nelly M, St Pierre Joseph P, Garofalo Andrea, Rainville Irene R, Hiller Elaine, Treacy Daniel J, Rojas-Rudilla Vanesa, Wood Sam, Bair Elizabeth, Parello Michael, Huang Franklin, Giannakis Marios, Wilson Frederick H, Stover Elizabeth H, Corsello Steven M, Nguyen Tom, Rana Huma Q, Church Alanna J, Lowenstein Carol, Cibulskis Carrie, Amin-Mansour Ali, Heng Jennifer, Brais Lauren, Santos Abigail, Bauer Patrick, Waldron Amanda, Lo Peter, Gorman Megan, Lydon Christine A, Welch Marisa, McNamara Philip, Gabriel Stacey, Sholl Lynette M, Lindeman Neal I, Garber Judy E, Joffe Steven, Van Allen Eliezer M, Gray Stacy W, Ja Nne Pasi A, Garraway Levi A, Wagle Nikhil
Abstract excerpt
PURPOSE: Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care. METHODS: One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from...
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