Open AccessDevelopment and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease
Author(s) -
Madhuri Hegde,
Avni Santani,
Rong Mao,
Andrea FerreiraGonzalez,
Karen E. Weck,
Karl V. Voelkerding
Publication year - 2017
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/tq3f-wg74
Subject(s) - germline , exome sequencing , genetics , biology , disease , computational biology , exome , genome , whole genome sequencing , gene , medicine , mutation