Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
The transition of whole-exome and whole-genome sequencing (WES/WGS) from the research setting to routine clinical practice remains challenging.
Author(s): Shyr, Casper, Kushniruk, Andre, van Karnebeek, Clara D M, Wasserman, Wyeth W
DOI: 10.1093/jamia/ocv053