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Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data

Human Molecular Genetics(2022)10.1093/hmg/ddac117Source: DataRank Database

Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data is a research paper published in Human Molecular Genetics (2022). On theSindex it has a DataRank of 0.455. It has been cited 6 times, with 4 citing works in its 1-hop citation network.

N/A

0.455DataRank · unranked

Scored on demand from live citation data

Open Access6 citations · 4 citing works in its network

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (42 grants)Impact (FWCI 0.84)OA: bronzeTopics (57)IDs (PubMed, PMC, OpenAlex)SDGs (3)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 64%Citation Network 36%

Base Score Contribution

0.292

From this paper's citation signal

Citation Network Contribution

0.164

From 3 citing papers with measurable signal

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Top 4 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 4 citers.

Genetic insights into lung function inform better management of respiratory diseases
Cell Reports Medicine20232 citations7 referencesContributes 0.157
Genetics of chronic respiratory disease
Nature Reviews Genetics202447 citations172 referencesContributes 0.023
Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD
PLoS Genetics20252 citations85 referencesContributes 0.013
Genetic variants in pulmonary hypertension associated with chronic obstructive pulmonary disease
Current Opinion in Pulmonary Medicine20260 citations45 referencesContributes 0.000

Authors (26)

Julian Hecker ORCID,R. Graham Barr ORCID,Eric Boerwinkle ORCID,Brian E. Cade ORCID,Adolfo Correa ORCID

Live enrichment

PubMed:35766891 PMC:PMC9652112 OpenAlex:https://openalex.org/W4283735302

National Heart, Lung, and Blood Institute

Grant: phs001211

National Heart, Lung, and Blood Institute

Grant: R21 HL121457

National Heart, Lung, and Blood Institute

Grant: R21 HL129924

National Heart, Lung, and Blood Institute

Grant: K23 HL130627

National Heart, Lung, and Blood Institute

Grant: R01 HL077612

National Heart, Lung, and Blood Institute

Grant: R01 HL149861

National Heart, Lung, and Blood Institute

Grant: R01 HL135142

National Heart, Lung, and Blood Institute

Grant: R01 HL137927

National Heart, Lung, and Blood Institute

Grant: R01 HL089856

National Heart, Lung, and Blood Institute

Grant: R01 HL147148

National Heart, Lung, and Blood Institute

Grant: K01 HL129039

National Heart, Lung, and Blood Institute

Grant: U01 HL089897

National Heart, Lung, and Blood Institute

Grant: U01 HL089856

Baylor College of Medicine Human Genome Sequencing Center

Grant: HHSN268201500015C

Baylor College of Medicine Human Genome Sequencing Center

Grant: 3U54HG003273-12S2

Broad Institute for MIT and Harvard

Grant: 3R01HL092577-06S1

Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval

Broad Institute for MIT and Harvard

Grant: 3U54HG003067-13S1

Large Scale Sequencing and Analysis of Genomes

Broad Institute for MIT and Harvard

Grant: HHSN268201500014C

University of Washington Northwest Genomics Center

Grant: 3R01 HL089856-08S1

University of Washington Northwest Genomics Center

Grant: HHSN268201100037C

TOPMed Informatics Research Center

Grant: 3R01HL-117626-02S1

TOPMed Informatics Research Center

Grant: HHSN268201800002I

NHLBI NIH HHS

Grant: R21 HL153700

NHGRI NIH HHS

Grant: R01 HG006139

NHLBI NIH HHS

Grant: R01 HL093081

NHLBI NIH HHS

Grant: R01 HL153805

NHLBI NIH HHS

Grant: R03 HL154284

NHGRI NIH HHS

Grant: U54 HG003273

National Institutes of Health

Grant: 3R01HL120393-02S1

Rare variants and NHLBI traits in deeply phenotyped cohorts

National Institutes of Health

Grant: 1R01HL147148-01

Genetic and Functional Dissection of a Cluster of COPD GWAS Signals on Chromosome 4q

National Institutes of Health

Grant: 5R21HL121457-02

HDL cholesterol and chronic lower respiratory disease events in five cohorts

National Institutes of Health

Grant: 1R21HL129924-01

Albuminuria and incident chronic lung disease exacerbations in five population-based cohorts

National Institutes of Health

Grant: 5U01HL089897-13

(1 of 2) Genetic Epidemiology of COPD

National Institutes of Health

Grant: 5K01HL129039-03

Network-based Methods for Understanding Genetic Determinants and Epistasis in COPD

National Institutes of Health

Grant: 5R01HL077612-02

Endothelial Dysfunction, Biomarkers and Lung Function

National Institutes of Health

Grant: 5R01HL137927-02

Identifying functional variants in COPD GWAS loci

National Institutes of Health

Grant: 2R01HL089856-06A1

(2 of 2) Genetic Epidemiology of COPD

National Institutes of Health

Grant: 5R01HL135142-04

Genetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung Abnormalities

National Institutes of Health

Grant: 5K23HL130627-03

Hypercoagulability and Chronic Lung Disease in Older Adults

National Institutes of Health

Grant: 3R01HL117626-02S1

Studies of Rare Genetic Variation in the Isolated Population of Sardinia

National Institutes of Health

Grant: 5R01HL149861-03

Clinical Implications, Genomics, and Transcriptions of Mucus Plugging in Smokers

Trans-Omics in Precision Medicine

FWCI

0.84

Citation Percentile

0.7%

Citation Trend

2023

2024

2025

2026

bronzeLicense: OUP Standard Publication Reuse

journalhttps://academic.oup.com/hmg/article-pdf/31/22/3873/46937613/ddac117.pdf

publisherhttps://academic.oup.com/hmg/article-pdf/31/22/3873/46937613/ddac117.pdf

publisherhttps://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac117/44679719/ddac117.pdf

journalhttps://doi.org/10.1093/hmg/ddac117

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35766891

Fields of Study

Genetic Associations and EpidemiologyChronic Obstructive Pulmonary Disease (COPD) ResearchGenomics and Rare Diseases0301 basic medicine03 medical and health sciencesHumansGenetic Predisposition to DiseasePolymorphism, Single NucleotidePulmonary Disease, Chronic ObstructiveGenome-Wide Association StudyPhenotype

MeSH Terms

HumansPhenotypeGenetic Predisposition to DiseasePolymorphism, Single NucleotidePulmonary Disease, Chronic ObstructiveGenome-Wide Association Study

Keywords

HeritabilityMinor allele frequencyCOPDGenotypingGenome-wide association studyGeneticsLinkage disequilibriumMissing heritability problemBiologyAlleleAllele frequencyMedicineGenetic variantsGenotypeInternal medicineHaplotypeSingle-nucleotide polymorphismGeneChronic ObstructiveChronic Obstructive Pulmonary Disease1.1 Normal biological development and functioning610Medical and Health SciencesPolymorphism, Single NucleotidePulmonary DiseasePulmonary Disease, Chronic Obstructive6162.1 Biological and endogenous factorsHumansGenetic Predisposition to DiseasePolymorphismLungGenetics & HeredityHuman GenomeSingle NucleotideBiological SciencesNHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium and TOPMed Lung Working GroupPhenotypeRespiratoryGeneric health relevance

Sustainable Development Goals

SDG 3: 3. Good healthSDG 16: 16. Peace & justiceSDG 0: Good health and well-being

Related Papers (1)

Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers

N/A

1.1DataRank · unranked

PLoS Genetics(2021)

co-cited

10.1371/journal.pgen.1009254