EPISODE · Sep 6, 2017 · 13 MIN
Genepod - Making sense of a deluge of variants: harnessing the power of community
from Springer Nature · host Springer Nature
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201714a.html Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201737a.html Sources of discordance among germ-line variant classifications in ClinVar https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201760a.html A new era in the interpretation of human genomic variation https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201790a.html
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Genepod - Making sense of a deluge of variants: harnessing the power of community
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