ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

Genome-scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high-quality interpretation requires multiple specialties to join forces to accelerate the interpretation of sequence variant pathogenicity. With over 60...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: Rivera-Muñoz, Edgar A., Milko, Laura V., Harrison, Steven, Azarriti, Danielle, Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi, Watson, Michael, Berg, Jonathan S.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2018
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6225902/
https://ncbi.nlm.nih.gov/pubmed/30311389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23645
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items