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Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis

Molecular Case Studies(2020)10.1101/mcs.a004531Source: DataRank Database

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis is a research paper published in Molecular Case Studies (2020). On theSindex it has a DataRank of 0. It has been cited 11 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access11 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (2 grants)OA: goldTopics (68)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

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 (10)

Andrew T. Braun ORCID,Philip M. Farrell ORCID,Anita Laxova,Donna M. Brown ORCID,James Holt ORCID

Live enrichment

PubMed:32014855 PMC:PMC6996517 OpenAlex:https://openalex.org/W3004466283

NIDDK NIH HHS

Grant: R01 DK034108

National Institutes of Health

Grant: 5R01DK034108-17

Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

goldLicense: cc-by-nc

journalhttp://molecularcasestudies.cshlp.org/content/6/1/a004531.full.pdf

publisherhttp://molecularcasestudies.cshlp.org/content/6/1/a004531.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/mcs.a004531

journalhttps://doi.org/10.1101/mcs.a004531

repositoryhttps://pubmed.ncbi.nlm.nih.gov/32014855

Fields of Study

Cystic Fibrosis Research AdvancesGenomics and Rare DiseasesPneumonia and Respiratory Infections0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

Pharmacogenomic TestingWhole Genome SequencingAdolescentChildChild, PreschoolCystic FibrosisGenotypeHumansInfant, NewbornMaleMutationPhenotypePrognosisRespiratory Function TestsRadiography, ThoracicGenetic VariationBiomarkersNeonatal ScreeningCystic Fibrosis Transmembrane Conductance RegulatorSiblingsGenome-Wide Association Study

Keywords

PharmacogenomicsCystic fibrosisExome sequencingDiseaseMedicineCohortBrotherGenome-wide association studyGenotypeGeneticsBiologyInternal medicinePhenotypeSingle-nucleotide polymorphismGeneDiabetes mellitusBronchiectasisChronic Lung DiseaseExocrine Pancreatic InsufficiencyMeconium IleusRecurrent Respiratory InfectionsElevated Sweat ChlorideMultiple Bilateral PneumothoracesRecurrent Aspergillus InfectionsResearch ReportMaleAdolescentSiblingsInfant, NewbornCystic Fibrosis Transmembrane Conductance RegulatorGenetic VariationPrognosisPharmacogenomic TestingRespiratory Function TestsNeonatal ScreeningChild, PreschoolMutationHumansRadiography, ThoracicChildBiomarkers

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being