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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

PLoS Genetics(2013)10.1371/journal.pgen.1003709Source: DataRank Database

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes is a research paper published in PLoS Genetics (2013). On theSindex it has a DataRank of 1.0. It has been cited 991 times.

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1.0DataRank · unranked

Scored on demand from live citation data

Open Access991 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (15 grants)Impact (FWCI 59.50)OA: goldTopics (45)Linked Datasets (25)DataCite Reuse (25)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 100%Citation Network 0%

Base Score Contribution

1.0

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (5)

Quanli Wang ORCID,Erin L. Heinzen ORCID,Andrew S. Allen ORCID,David B. Goldstein ORCID,Slavé Petrovski ORCID

Live enrichment

PubMed:23990802 PMC:PMC3749936 OpenAlex:https://openalex.org/W1964426200

NHLBI NIH HHS

Grant: RC2 HL102925

NHLBI NIH HHS

Grant: RC2 HL103010

NHLBI NIH HHS

Grant: RC2 HL102926

NHLBI NIH HHS

Grant: RC2 HL102923

NHLBI NIH HHS

Grant: RC2 HL102924

NINDS NIH HHS

Grant: U01 NS077303

NHLBI NIH HHS

Grant: UC2 HL102923

NHLBI NIH HHS

Grant: UC2 HL102924

NHLBI NIH HHS

Grant: UC2 HL102925

NHLBI NIH HHS

Grant: UC2 HL102926

NHLBI NIH HHS

Grant: UC2 HL103010

NINDS NIH HHS

Grant: U01 NS077364

National Institutes of Health

Grant: 3U01NS077303-04S1

3 of 7 Epi4K: Sequencing, Biostatistics & Bioinformatics Core

National Health and Medical Research Council (NHMRC)

Grant: 1035130

Using next-generation sequencing technology to identify genetic determinants of epilepsy and sporadic epilepsy prognosis

National Institutes of Health

Grant: 5U01NS077364-03

4 of 7: Epi4K: Epileptic Encephalopathies Project

FWCI

59.50

Citation Percentile

1.0%

Citation Trend

2013

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goldLicense: cc-by

journalhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003709&type=printable

publisherhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003709&type=printable

publisherhttp://dx.plos.org/10.1371/journal.pgen.1003709

journalhttps://doi.org/10.1371/journal.pgen.1003709

repositoryhttps://pubmed.ncbi.nlm.nih.gov/23990802

Fields of Study

Genomics and Rare DiseasesGenetic Associations and EpidemiologyGenomics and Phylogenetic Studies0301 basic medicine0303 health sciences03 medical and health sciencesExomeGenetic Diseases, InbornGenetic VariationGenome, HumanHumansMutationPrecision Medicine

MeSH Terms

HumansMutationGenetic VariationGenome, HumanGenetic Diseases, InbornPrecision MedicineExome

Keywords

BiologyGeneticsMendelian inheritanceExomeExome sequencingGenetic variationGeneGenomeDiseaseGenome-wide association studyHuman genetic variationComputational biologyMutationHuman genomeSingle-nucleotide polymorphismGenotypeMedicine570Genome, HumanGenetic Diseases, InbornQH426-470576HumansPrecision MedicineResearch Article

Sustainable Development Goals

SDG 3: 3. Good health

Additional file 1 of Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

10.6084/m9.figshare.12270545.v1figshare

Additional file 1 of Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

10.6084/m9.figshare.12270545figshare

Additional file 10 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643194.v1figshare

Additional file 10 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643194figshare

Additional file 1 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643200.v1figshare

Additional file 1 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643200figshare

Additional file 3 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643209.v1figshare

Additional file 3 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643209figshare

Additional file 4 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643212.v1figshare

Additional file 4 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643212figshare

Additional file 5 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643218.v1figshare

Additional file 5 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643218figshare

Additional file 6 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643224.v1figshare

Additional file 6 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643224figshare

Additional file 7 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643230.v1figshare

Additional file 7 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643230figshare

Additional file 8 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643233.v1figshare

Additional file 8 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643233figshare

Additional file 9 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643236.v1figshare

Additional file 9 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

10.6084/m9.figshare.14643236figshare

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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

FAIR Checklist

DataRank Breakdown

Authors (5)

Funding (15 grants)

Impact

Open Access

Topics

Linked Datasets (25)

Annotations (Europe PMC)

Related Papers (10)