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A brief history of human disease genetics

Nature(2020)10.1038/s41586-019-1879-7Source: DataRank Database

A brief history of human disease genetics is a research paper published in Nature (2020). On theSindex it has a DataRank of 9.2. It has been cited 738 times, with 200 citing works in its 1-hop citation network.

N/A

9.2DataRank · unranked

Scored on demand from live citation data

Open Access738 citations · 200 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 (49 grants)OA: bronzeTopics (19)Linked Datasets (25)DataCite Reuse (25)IDs (PubMed, PMC)SDGs (1)

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 11%Citation Network 89%

Base Score Contribution

0.991

From this paper's citation signal

Citation Network Contribution

8.2

From 200 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 200 citers.

The DisGeNET cytoscape app: Exploring and visualizing disease genomics data
Computational and Structural Biotechnology Journal2021559 citations20 referencesContributes 0.316
Direct-to-Consumer Genetic Testing: A Comprehensive Review
Therapeutic Innovation & Regulatory Science202328 citations16 referencesContributes 0.210
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics
American Journal of Medical Genetics Part A202224 citations16 referencesContributes 0.201
DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome
BMC Neurology202229 citations23 referencesContributes 0.148
Workshop proceedings: GWAS summary statistics standards and sharing
Cell Genomics202146 citations29 referencesContributes 0.133

Authors (18)

Judy H. Cho ORCID,Rory Collins ORCID,Nancy J. Cox ORCID,Emmanouil T. Dermitzakis ORCID,Matthew E. Hurles ORCID

Live enrichment

PubMed:31915397 PMC:PMC7405896

NIDDK NIH HHS

Grant: U01 DK062429

NHGRI NIH HHS

Grant: U01 HG009610

National Institute for Health Research (NIHR)

Grant: NF-SI-0617-10090

Wellcome Trust

Grant: 090532

Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics.

Wellcome Trust

Grant: 106130

Wellcome Trust

Grant: 212259

British Heart Foundation

Grant: CH/1996001/9454

NIDDK NIH HHS

Grant: R01 DK110113

NHGRI NIH HHS

Grant: R01 HG010297

NIDDK NIH HHS

Grant: U01 DK105535

NHGRI NIH HHS

Grant: U01 HG009080

NIDDK NIH HHS

Grant: U24 DK062429

NICHD NIH HHS

Grant: P50 HD028138

NIMHD NIH HHS

Grant: U54 MD010722

Wellcome Trust

Grant: 098381

NIDDK NIH HHS

Grant: R01 DK106593

NIMH NIH HHS

Grant: R01 MH113362

NIDDK NIH HHS

Grant: U01 DK062422

NHGRI NIH HHS

Grant: U01 HG006485

NIDDK NIH HHS

Grant: U01 DK085545

NHGRI NIH HHS

Grant: U41 HG009649

Wellcome Trust

Grant: 106130/Z/14/Z

Wellcome Trust

Grant: 203141

NIDDK NIH HHS

Grant: R01 DK098032

NHLBI NIH HHS

Grant: R01 HL104608

NHGRI NIH HHS

Grant: U01 HG009086

National Institutes of Health

Grant: 1R01DK110113-01

Study of coding variants in human obesity and their functional characterization using human iPSC-derived cellular models

National Institutes of Health

Grant: 5U01DK062429-13

Inflammatory Bowel Disease Genetics Consortium Data Coordinating Center

National Institutes of Health

Grant: 5R01DK106593-05

Integrative Genomic Analyses of Macrophages in Crohns Disease

National Institutes of Health

Grant: 5U01DK062422-22

Mount Sinai School of Medicine Inflammatory Bowel Disease Genetics Research Cente

National Institutes of Health

Grant: 5R01HL104608-02

New Approaches for Empowering Studies of Asthma in Populations of African Descent

National Institutes of Health

Grant: 7U01DK105535-06

Integrating genome-scale data to reveal causal mechanisms in type 2 diabetes

Swiss National Science Foundation

Grant: 110113

NCCR Molecular Oncology: From Basic Research to Therapeutic Apporaches (phase II)

Swiss National Science Foundation

Grant: 104608

Eigeninteresse und Gemeinwohlbindung im Freiwilligen Sozialen Jahr. Adoleszenzkrisenbewältigung und sittliche Vergemeinschaftung als Motivation der Freiwilligen

National Health and Medical Research Council (NHMRC)

Grant: 1113531

Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance

National Institutes of Health

Grant: 5U01HG009086-03

Analysis, Validation and Resource Creation for Genome Sequencing of Complex Diseases

Swiss National Science Foundation

Grant: 113362

Identifying Network Irregularities by Error-tolerant Graph Matching

National Institutes of Health

Grant: 5U01DK085545-02

Identifying variants causal for Type 2 Diabetes in Major human populations

National Institutes of Health

Grant: 3U01HG006485-07S1

Adolescent and Young Adult Cancer Patients Attitudes toward and Decision-Making Preferences about Clinical Genome Sequencing

National Institutes of Health

Grant: 5U01HG009610-04

Incorporating genomics into the clinical care of diverse NYC children

Swiss National Science Foundation

Grant: 10297

Das Erziehungsheim und seine Wirkung (Wirkungsanalyse)

National Institutes of Health

Grant: 3U41HG009649-01S1

The Future of PharmGKB Funding Under NHGRI

National Institutes of Health

Grant: 5P50HD028138-27

Harvard Reproductive Endocrine Sciences Center

National Institutes of Health

Grant: 5R01MH113362-04

Discovering Biology for Neuropsychiatric Diseases Through Omics Studies on Comorbidities

National Institutes of Health

Grant: 3U01HG009080-05S1

Optimizing imputation for diverse populations in a distributed framework

National Institutes of Health

Grant: 5U54MD010722-05

Center of Excellence in Precision Medicine and Population Health

National Institutes of Health

Grant: 5R01HG010297-04

PAGE III: Population Architecture using Genomics and Epidemiology

Howard Hughes Medical Institute

Wellcome Trust

bronzeLicense: Springer TDM

publisherhttps://www.nature.com/articles/s41586-019-1879-7.pdf

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7405896

repositoryhttps://archive-ouverte.unige.ch/unige:172421

https://doi.org/10.1038/s41586-019-1879-7

https://pubmed.ncbi.nlm.nih.gov/31915397

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

AnimalsHumansRare DiseasesGenomicsGenotypePhenotypeGenetic VariationGenetic Testing

Keywords

PhenotypeRare DiseasesGenotypeAnimalsGenetic VariationHumansGenetic TestingGenomics

Sustainable Development Goals

SDG 3: 3. Good health

Additional file 1 of Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong

10.6084/m9.figshare.15253941.v1figshare

Additional file 1 of Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong

10.6084/m9.figshare.15253941figshare

Additional file 46 of TSABL: Trait Specific Annotation Based Locus predictor

10.6084/m9.figshare.20076848.v1figshare

Additional file 46 of TSABL: Trait Specific Annotation Based Locus predictor

10.6084/m9.figshare.20076848figshare

Additional file 1 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510498.v1figshare

Additional file 1 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510498figshare

Additional file 2 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510501.v1figshare

Additional file 2 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510501figshare

Additional file 3 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510504.v1figshare

Additional file 3 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510504figshare

Additional file 4 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510507.v1figshare

Additional file 4 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510507figshare

Additional file 5 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510510.v1figshare

Additional file 5 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

10.6084/m9.figshare.21510510figshare

Additional file 2 of Genetic effects of sequence-conserved enhancer-like elements on human complex traits

10.6084/m9.figshare.24934550.v1figshare

Additional file 2 of Genetic effects of sequence-conserved enhancer-like elements on human complex traits

10.6084/m9.figshare.24934550figshare

Additional file 2 of The contribution of silencer variants to human diseases

10.6084/m9.figshare.26211646.v1figshare

Additional file 2 of The contribution of silencer variants to human diseases

10.6084/m9.figshare.26211646figshare

Additional file 3 of Genetic effects of sequence-conserved enhancer-like elements on human complex traits

10.6084/m9.figshare.26658229.v1figshare

Additional file 3 of Genetic effects of sequence-conserved enhancer-like elements on human complex traits

10.6084/m9.figshare.26658229figshare

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