[HTML][HTML] ClinGen—the clinical genome resource

HL Rehm, JS Berg, LD Brooks… - … England Journal of …, 2015 - Mass Medical Soc
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, DH Ledbetter
New England Journal of Medicine, 2015Mass Medical Soc
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The assignment of pathogenic status to genetic variants has been stymied by conflicting study results and lack of a publicly accessible database, such as ClinVar, which is now part of the Clinical Genome Resource.
The New England Journal Of Medicine