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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

medRxiv(2023)10.1101/2023.02.24.23286431Source: DataRank Database

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP is a research paper published in medRxiv (2023). On theSindex it has a DataRank of 0. It has been cited 17 times.

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Open Access17 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (6 grants)OA: greenTopics (15)IDs (PubMed, OpenAlex)SDGs (1)

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Accessible (1/2)

Open Access

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Reusable (0/3)

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Authors (16)

Miguel de la Hoya ORCID,George A. R. Wiggins ORCID,Amanda Lindy ORCID,Lisa M. Vincent ORCID,Michael T. Parsons ORCID

Live enrichment

PubMed:36865205 OpenAlex:https://openalex.org/W4322208252

National Institutes of Health

Grant: 3U24HG009650-07S1

Administrative Supplement: The Clinical Genome Resource - Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale

National Institutes of Health

Grant: 5U24HG009649-06

Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)

National Institutes of Health

Grant: 2U24HG006834-08

Broad-Geisinger Clinical Genome Resource

NHGRI NIH HHS

Grant: U24 HG006834

NHGRI NIH HHS

Grant: U24 HG009649

NHGRI NIH HHS

Grant: U24 HG009650

greenLicense: cc-by

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/02/26/2023.02.24.23286431.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2023.02.24.23286431

repositoryhttps://doi.org/10.1101/2023.02.24.23286431

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36865205

Fields of Study

Genomics and Rare DiseasesRNA modifications and cancerGenetic factors in colorectal cancer0303 health sciences03 medical and health sciences

Keywords

RNA splicingAlternative splicingBiologyMinigeneComputational biologyGeneticsGeneRNAExonArticle

Sustainable Development Goals

SDG 3: 3. Good health