Cargando...

Updated Recommendation for the Benign Stand Alone ACMG/AMP Criterion

The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation working group set out to refine the ACMG/AMP variant pathogenicity recommendations for standalone rule BA1 (a variant with minor allele frequency (MAF) >0.05 is benign), by clarifying how it should be used and specifying a set...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Mutat
Main Authors: Ghosh, Rajarshi, Harrison, Steven M, Rehm, Heidi L., Plon, Sharon E., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado: 2018
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6188666/
https://ncbi.nlm.nih.gov/pubmed/30311383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23642
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!