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Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases

Genetics in Medicine(2022)10.1016/j.gim.2022.03.022Source: DataRank Database

Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases is a research paper published in Genetics in Medicine (2022). On theSindex it has a DataRank of 1.1. It has been cited 32 times, with 19 citing works in its 1-hop citation network.

N/A

1.1DataRank · unranked

Scored on demand from live citation data

Open Access32 citations · 19 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 (3 grants)Impact (FWCI 7.02)OA: hybridTopics (32)Linked Datasets (20)DataCite Reuse (20)IDs (PubMed, OpenAlex)SDGs (2)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

DataCite relations
Linked datasets

Reusable (0/3)

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DataRank Breakdown

Base Score 48%Citation Network 52%

Base Score Contribution

0.524

From this paper's citation signal

Citation Network Contribution

0.558

From 15 citing papers with measurable signal

Learn more about DataRank methodology →

Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 19 citers.

Polygenic Risk in Families With Spontaneous Coronary Artery Dissection
JAMA Cardiology202417 citations28 referencesContributes 0.103
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
EBioMedicine202241 citations43 referencesContributes 0.087
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia
JACC Advances202310 citations31 referencesContributes 0.077
Genetic modifiers of rare variants in monogenic developmental disorder loci
Nature Genetics202460 citations58 referencesContributes 0.071
A machine learning model to aid detection of familial hypercholesterolaemia
medRxiv20222 citations24 referencesContributes 0.046

Authors (4)

Vincenzo Forgetta ORCID,J. Brent Richards ORCID,Celia M.T. Greenwood ORCID,Tianyuan Lu ORCID

Live enrichment

PubMed:35460399 OpenAlex:https://openalex.org/W4224324499

Canadian Institutes of Health Research

Grant: 365825

Canadian Institutes of Health Research

Grant: 409511

Canadian Institutes of Health Research

Grant: unidentified

unidentified

FWCI

7.02

Citation Percentile

1.0%

Citation Trend

2022

2023

2024

2025

2026

hybridLicense: cc-by-nc-nd

journalhttp://www.gimjournal.org/article/S1098360022007171/pdf

publisherhttp://www.gimjournal.org/article/S1098360022007171/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360022007171?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360022007171?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2022.03.022

Fields of Study

Genetic Associations and EpidemiologyGenomics and Rare DiseasesBRCA gene mutations in cancer0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

Diabetes Mellitus, Type 2HumansRisk FactorsGenetic Predisposition to DiseaseMultifactorial InheritanceExome

Keywords

Exome sequencingDiseaseMedicineBiobankFamily historyPolygenic risk scoreGeneticsGenetic testingBiologyInternal medicineGenotypeMutationSingle-nucleotide polymorphismGeneMultifactorial InheritanceDiabetes Mellitus, Type 2Risk FactorsHumansExomeGenetic Predisposition to Disease

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Reduced inequalities

Additional file 1 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597102.v1figshare

Additional file 1 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597102figshare

Additional file 2 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597105.v1figshare

Additional file 2 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597105figshare

Additional file 3 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597108.v1figshare

Additional file 3 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597108figshare

Additional file 4 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597111.v1figshare

Additional file 4 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597111figshare

Additional file 8 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597123figshare

Additional file 9 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597126.v1figshare

Additional file 6 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597117figshare

Additional file 5 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597114.v1figshare

Additional file 7 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597120figshare

Additional file 5 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597114figshare

Additional file 6 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597117.v1figshare

Additional file 10 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597129.v1figshare

Additional file 8 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597123.v1figshare

Additional file 10 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597129figshare

Additional file 9 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597126figshare

Additional file 7 of Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

10.6084/m9.figshare.26597120.v1figshare

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