Variant-level matching for diagnosis and discovery: Challenges and opportunities.

"CONFLICTS OF INTEREST Michael J. Bamshad is the Chair of the Scientific Advisory Committee for GeneDx. James R. Lupski has stock ownership in 23andMe, is a paid consultant for Regeneron Genetics Center, and is a coinventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics (BG); J.R.L. serves on the Scientific Advisory Board (SAB) of BG. The other authors have no conflicts of interest to declare."

"This article was funded by the National Human Genome Research Institute/National Heart, Lung, and Blood Institute(NHGRI/NHLBI UM1 HG006542)."