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Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

medRxiv(2020)10.1101/2020.07.01.20143750Source: DataRank Database

Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients is a research paper published in medRxiv (2020). On theSindex it has a DataRank of 0.

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (3 grants)OA: greenTopics (24)IDs (PubMed, OpenAlex)SDGs (2)

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Authors (26)

Kyle Gettler,Mamta Giri ORCID,Dalin Li ORCID,Çiğdem Sevim Bayrak ORCID,Aayushee Jain ORCID

Live enrichment

PubMed:21097893 OpenAlex:https://openalex.org/W3040592712

National Institutes of Health

Grant: 1R01DK123530-01

Identifying population-specific IBD-associated mutations, genes and pathways

National Institutes of Health

Grant: 5U01DK062429-13

Inflammatory Bowel Disease Genetics Consortium Data Coordinating Center

National Institutes of Health

Grant: 5P01DK046763-22

IBD: Genetic and Immunopathologic Mechanisms

greenLicense: cc-by-nc-nd

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2020/07/02/2020.07.01.20143750.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2020.07.01.20143750

repositoryhttps://doi.org/10.1101/2020.07.01.20143750

https://dx.doi.org/10.1101/2020.07.01.20143750

Fields of Study

Inflammatory Bowel DiseaseIL-33, ST2, and ILC PathwaysHelicobacter pylori-related gastroenterology studies0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

Genome-wide association studyInflammatory bowel diseaseBiologyGeneticsExome sequencingNOD2Single-nucleotide polymorphismDiseaseGenetic associationExomeMissing heritability problemPopulationCandidate geneGeneMedicinePhenotypeGenotypeInternal medicine

Sustainable Development Goals

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