Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

PURPOSE: We analyzed the Exome Aggregation Consortium (ExAC) data set for the presence of individuals with pathogenic genotypes implicated in Mendelian pediatric disorders. METHODS: ClinVar likely/pathogenic variants supported by at least one peer-reviewed publication were assessed within the ExAC d...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Genet Med
Hoofdauteurs: Tarailo-Graovac, Maja, Zhu, Jing Yun Alice, Matthews, Allison, van Karnebeek, Clara D M, Wasserman, Wyeth W
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
Onderwerpen:
Original Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729344/
https://ncbi.nlm.nih.gov/pubmed/28471432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.50
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items