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Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.014Source: DataRank Database

Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index is a research paper published in The American Journal of Human Genetics (2023). On theSindex it has a DataRank of 0. It has been cited 56 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access56 citations

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Enrichment:Funding (31 grants)Topics (20)IDs (PubMed, PMC)Annotations (1)

FAIR Checklist

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Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (5)

Karoline Lutz,Christian Mertes ORCID,Vicente A. Yépez ORCID,Julien Gagneur ORCID,Ines F. Scheller ORCID

Live enrichment

PubMed:38006880 PMC:PMC10716352

Bundesministerium für Bildung und Forschung

Grant: 01KU2016B

National Institute of Neurological Disorders and Stroke

Grant: U01HG007530

National Institute of Neurological Disorders and Stroke

Grant: U01HG007672

National Institute of Neurological Disorders and Stroke

Grant: U01HG007674

National Institute of Neurological Disorders and Stroke

Grant: U01HG007690

National Institute of Neurological Disorders and Stroke

Grant: U01HG007703

National Institute of Neurological Disorders and Stroke

Grant: U01HG007708

National Institute of Neurological Disorders and Stroke

Grant: U01HG007709

National Institute of Neurological Disorders and Stroke

Grant: U01HG007942

National Institute of Neurological Disorders and Stroke

Grant: U01HG007943

National Institute of Neurological Disorders and Stroke

Grant: U01HG010215

National Institute of Neurological Disorders and Stroke

Grant: U01HG010217

National Institute of Neurological Disorders and Stroke

Grant: U01HG010219

National Institute of Neurological Disorders and Stroke

Grant: U01HG010230

National Institute of Neurological Disorders and Stroke

Grant: U01HG010233

National Institute of Neurological Disorders and Stroke

Grant: U01TR001395

National Institute of Neurological Disorders and Stroke

Grant: U01TR002471

National Institute of Neurological Disorders and Stroke

Grant: U54NS093793

National Institute of Neurological Disorders and Stroke

Grant: U54NS108251

Deutsche Forschungsgemeinschaft

Grant: 441914366

Deutsche Forschungsgemeinschaft

Grant: 466168626

Deutsche Forschungsgemeinschaft

Grant: 466168909

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

National Cancer Institute

National Institute of Mental Health

National Heart, Lung, and Blood Institute

National Institute on Drug Abuse

National Institutes of Health

National Human Genome Research Institute

Office of Strategic Coordination

BMBF Berlin

Fields of Study

0206 medical engineering02 engineering and technology

MeSH Terms

HumansRNA SplicingAlternative SplicingIntronsAlgorithmsRNA-Seq

Keywords

Rna-seqRare DiseaseRare VariantOutlier DetectionAberrant SplicingRare Disease DiagnosticsAlternative SplicingRNA SplicingHumansAberrant Splicing ; Rna-seq ; Outlier Detection ; Rare Disease ; Rare Disease Diagnostics ; Rare VariantIntronsAlgorithms