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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.011Source: DataRank Database

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies is a research paper published in The American Journal of Human Genetics (2020). On theSindex it has a DataRank of 0. It has been cited 112 times.

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Open Access112 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (10 grants)Impact (FWCI 11.41)OA: greenTopics (51)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (30)

Kathleen Muenzen ORCID,Leslie G. Biesecker,Kevin M. Bowling,Gregory M. Cooper ORCID,Michael O. Dorschner

Live enrichment

PubMed:33108757 PMC:PMC7675005 OpenAlex:https://openalex.org/W3097738012

NHGRI NIH HHS

Grant: U01 HG008676

NHGRI NIH HHS

Grant: U01 HG009599

NHGRI NIH HHS

Grant: U41 HG006834

NHGRI NIH HHS

Grant: U01 HG006487

NHGRI NIH HHS

Grant: U01 HG007301

NHGRI NIH HHS

Grant: U01 HG007292

NHGRI NIH HHS

Grant: U01 HG009610

NHGRI NIH HHS

Grant: U24 HG007307

NHGRI NIH HHS

Grant: U01 HG006485

National Institutes of Health

FWCI

11.41

Citation Percentile

1.0%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

greenLicense: http://www.elsevier.com/open-access/userlicense/1.0/

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7675005

publisherhttps://api.elsevier.com/content/article/PII:S0002929720303566?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929720303566?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ajhg.2020.09.011

Fields of Study

Genomics and Rare DiseasesBRCA gene mutations in cancerCancer Genomics and DiagnosticsCardiovascular DiseasesComputational BiologyGenetic TestingGenetic VariationGenetics, MedicalGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansLaboratoriesLaboratory Proficiency TestingNeoplasmsSequence Analysis, DNASoftwareTerminology as Topic

MeSH Terms

Cardiovascular DiseasesGenetic TestingGenetics, MedicalHumansLaboratoriesNeoplasmsTerminology as TopicSoftwareGenetic VariationGenome, HumanSequence Analysis, DNAComputational BiologyGenomicsHigh-Throughput Nucleotide SequencingLaboratory Proficiency Testing

Keywords

ConcordanceGenomicsExome sequencingMedicineExomeMedical geneticsComputational biologyWhole genome sequencingBioinformaticsGeneticsBiologyGenomeGeneInternal medicineMutationGenomic ImplementationAcmg-amp RecommendationsGermline Variant Classification

Sustainable Development Goals

SDG 0: Partnerships for the goals