HGVS nomenclature basics and legacy variants

Описание к видео HGVS nomenclature basics and legacy variants

Description: There are two related topics in this video:-
1)The basics of HGVS nomenclature.
Presenter: Steven Harrison, PhD, co-chair of the ClinGen Sequence Variant Interpretation Working Group (SVI)
2) Determining HGVS nomenclature for legacy variants with outdated nomenclature (this section of the video starts at ~0:41:30).
Presenter: Andy Grant, BS, ClinGen biocurator
Recorded on: February 14, 2019, for the ClinGen Biocurator Working Group
https://clinicalgenome.org/
https://clinicalgenome.org/working-gr...

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