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   Articles with "variant classification" as a keyword



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Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53

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recommendations! 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
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LDLR variants functional characterization: Contribution to variant classification.

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recommendations! 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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recommendations! Published in 2023 at "Bioinformatics"

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

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

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recommendations! Published in 2024 at "Human molecular genetics"

DOI: 10.1093/hmg/ddae009

Abstract: Since first publication of the American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) variant classification guidelines, additional recommendations for application of certain criteria have been released (https://clinicalgenome.org/docs/), to improve their application in… read more here.

Keywords: acmg amp; variant classification; proband counting;

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

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recommendations! Published in 2024 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2024-110034

Abstract: Background The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as ‘strong’ evidence (PS4) towards pathogenicity. Methods We developed the PS4-likelihood ratio calculator… read more here.

Keywords: evidence; variant classification; case control; likelihood ratio ... See more keywords

Abstract A111: An evaluation of the classification and reporting of STK11 and KEAP1 variants in a real-world US database of metastatic NSCLC tumours

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recommendations! Published in 2025 at "Cancer Immunology Research"

DOI: 10.1158/2326-6074.io2025-a111

Abstract: Introduction: Inactivating mutations in the STK11 (LKB1) and KEAP1 genes have been associated with poor prognosis in non-small cell lung cancer (NSCLC) patients. Currently, there are no approved treatment options aligned to STK11 and KEAP1;… read more here.

Keywords: classification; variant classification; stk11 keap1; real world ... See more keywords

Functional characterization of 105 Factor H variants associated with atypical HUS: lessons for variant classification.

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recommendations! Published in 2021 at "Blood"

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

HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer

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recommendations! Published in 2025 at "Human Genomics"

DOI: 10.1186/s40246-025-00787-w

Abstract: Multiple different evidence types as well as gene-specific variant classification guidelines need to be considered during the classification of variants, making the process complex. Therefore, tools that support variant classification by experts are urgently needed.… read more here.

Keywords: classification; cancer; variant classification; heredivar herediclassify ... See more keywords

Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals

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recommendations! Published in 2024 at "Frontiers in Veterinary Science"

DOI: 10.3389/fvets.2024.1497817

Abstract: Assessing the pathogenicity of a disease-associated genetic variant in animals accurately is vital, both on a population and individual scale. At the population level, breeding decisions based on invalid DNA tests can lead to the… read more here.

Keywords: pathogenicity; animal variant; domestic animals; variant classification ... See more keywords