ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23645
Abstract: 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.… read more here.
Keywords: interpretation; sequence variant; curation; clingen ... See more keywords
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
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DOI: 10.1101/mcs.a004739
Abstract: We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight… read more here.
Keywords: genome resource; clinical genome; case; curation ... See more keywords
Accessing clinical-grade genomic classification data through the ClinGen Data Platform
Sign Up to like & getrecommendations! Published in 2022 at "Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing"
DOI: 10.1142/9789811270611_0048
Abstract: The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have… read more here.
Keywords: grade genomic; data platform; clingen; clinical grade ... See more keywords
ClinGen Cancer Somatic Working Group - Standardizing and democratizing access to cancer molecular diagnostic data to drive translational research
Sign Up to like & getrecommendations! Published in 2018 at "Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing"
DOI: 10.1142/9789813235533_0023
Abstract: A growing number of academic and community clinics are conducting genomic testing to inform treatment decisions for cancer patients (1). In the last 3-5 years, there has been a rapid increase in clinical use of… read more here.
Keywords: research; treatment; cancer molecular; cancer ... See more keywords