Gene Curation SOP v12 and GCI Updates
Автор: ClinGen Resource
Загружено: 2026-01-23
Просмотров: 11
Описание:
In this video, the Gene Curation Working Group presents the changes in the Gene Curation SOP v12 that includes additional guidance on phasing status of recessive cases, scoring recurrent variants, and acknowledging secondary contributions. They also provide an update on the new features in the GCI.
Presenter: Marina DiStefano, PhD, FACMG; Christine Preston, PhD
Recorded on: January 22nd, 2026 for the ClinGen Biocurator Working Group
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