Trajectory of exonic variant discovery in a large clinical population: implications for variant curation
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0353-5
Abstract: PurposePrecision health initiatives and reduced sequencing costs are driving large-scale human genome analyses. Genetic variant curation is a bottleneck in clinical applications. The burden of variant curation can be high for newly discovered variants because… read more here.
Keywords: variant discovery; discovery; rate; curation ... See more keywords
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108807
Abstract: Background Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants… read more here.
Keywords: cdh1 variant; cdh1 specific; germline; variant curation ... See more keywords
Revision of RUNX1 variant curation rules
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022008017
Abstract: Sequence variant interpretation (SVI) is a formal process by which gene variants are classi fi ed as pathogenic (P), likely pathogenic (LP), variant of uncertain signi fi cance, likely benign (LB), or benign (B). The… read more here.
Keywords: revision runx1; variant curation; curation; pathology ... See more keywords
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Sign Up to like & getrecommendations! Published in 2019 at "Genome Medicine"
DOI: 10.1186/s13073-019-0683-1
Abstract: BackgroundThe 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant… read more here.
Keywords: functional assays; vcep; evidence; curation expert ... See more keywords
Designing an Optimal Expansion Method to Improve the Recall of a Genomic Variant Curation-Support Service
Sign Up to like & getrecommendations! Published in 2022 at "Studies in health technology and informatics"
DOI: 10.3233/shti220603
Abstract: The importance of genomic data for health is rapidly growing but accessing and gathering information about variants from different sources is hindered by highly heterogeneous representations of variants, as outlined by clinical associations (AMP/ASCO/CAP) in… read more here.
Keywords: curation support; variant curation; support service; genomic variant ... See more keywords