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Lista de obras de Steven M Harrison

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

artículo científico publicado en 2018

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

artículo científico publicado en 2018

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

artículo científico publicado en 2020

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

article

ClinGen's GenomeConnect registry enables patient-centered data sharing

artículo científico publicado en 2018

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

article by Alex Henrie et al published August 2018 in Human Mutation

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

artículo científico publicado en 2017

Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar

scientific article published on 21 November 2019

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

artículo científico publicado en 2018

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

scientific article published on 01 November 2018

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

artículo científico publicado en 2018

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Using ClinVar as a Resource to Support Variant Interpretation

artículo científico publicado en 2016

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