Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23972
Abstract: The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant classification are widely used for clinical interpretation of gene test results. These guidelines may be specified to genes/syndromes of interest… read more here.
Keywords: phenotype related; variant classification; acmg amp; gene ... See more keywords
LDLR variants functional characterization: Contribution to variant classification.
Sign Up to like & getrecommendations! Published in 2021 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2021.06.001
Abstract: BACKGROUND AND AIMS Familial hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. LDLR mutations are the cause of disease in 90% of the cases but functional studies have only… read more here.
Keywords: classification; variant classification; functional characterization; ldlr ... See more keywords
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
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DOI: 10.1093/bioinformatics/btad128
Abstract: Abstract Motivation Germline variant classification allows accurate genetic diagnosis and risk assessment. However, it is a tedious iterative process integrating information from several sources and types of evidence. It should follow gene-specific (if available) or… read more here.
Keywords: classification; variant classification; varhc package; gene specific ... See more keywords
Functional characterization of 105 Factor H variants associated with atypical HUS: lessons for variant classification.
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DOI: 10.1182/blood.2021012037
Abstract: Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy that can progress, when untreated, to end-stage renal disease. Most frequently, aHUS is caused by complement dysregulation due to pathogenic variants in genes that encode… read more here.
Keywords: classification; variant classification; functional characterization; factor ... See more keywords