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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

medRxiv(2021)10.1101/2021.04.01.21254633Source: DataRank Database

Clinical implementation of RNA sequencing for Mendelian disease diagnostics is a research paper published in medRxiv (2021). On theSindex it has a DataRank of 0. It has been cited 33 times.

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Open Access33 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)OA: greenTopics (50)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

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Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (53)

Mirjana Gušić ORCID,Robert Kopajtich ORCID,Christian Mertes ORCID,Nicholas H. Smith ORCID,Charlotte L. Alston ORCID

Live enrichment

PubMed:21097893 OpenAlex:https://openalex.org/W3162049754

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

UK Research and Innovation

Grant: MR/S005021/1

MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases

Wellcome Trust

Grant: 203105

Wellcome Centre for Mitochondrial Research

UK Research and Innovation

Grant: G0800674

The MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK)

greenLicense: cc-by-nc-nd

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2021/05/16/2021.04.01.21254633.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2021.04.01.21254633

repositoryhttps://doi.org/10.1101/2021.04.01.21254633

repositoryhttps://www.zora.uzh.ch/id/eprint/229871/1/ZORA_229871.pdf

Fields of Study

Genomics and Rare DiseasesRNA modifications and cancerGenetic factors in colorectal cancer0301 basic medicine03 medical and health sciences0303 health sciences

Keywords

Exome sequencingBiologyGeneRNA splicingComputational biologyGeneticsExomeTranscriptomeRNAExonMolecular diagnosticsBioinformaticsGene expressionPhenotypeGenetic diagnosticsRNA‑seq, Genetic diagnostics, Mendelian diseasesVARIANTSQH426-470MITOCHONDRIAL DISEASEWhole Exome SequencingGenetic diagnostics; Mendelian diseases; RNA-seq; Alleles; Humans; Sequence Analysis, RNA; Whole Exome Sequencing; RNA; TranscriptomeDDC Classification::6 Technik, Medizin, angewandte Wissenschaften :: 61 Medizin und Gesundheit :: 610 Medizin und GesundheitMendelian diseasesMedicine and Health SciencesHumansSequence Analysis, RNA: methodsAllelesGENE-EXPRESSIONinfo:eu-repo/classification/ddc/610ddc:610COMPLEXCARDIOMYOPATHYGenetic Diagnostics ; Mendelian Diseases ; Rna-seqSequence Analysis, RNAResearchRDEFICIENCYDEFECTONSETMedicineMUTATIONS CAUSERadboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesRNA-seqGENOMICS

Sustainable Development Goals

SDG 3: 3. Good health