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A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Human Mutation(2021)10.1002/humu.24172Source: DataRank Database

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians is a dataset published in Human Mutation (2021). On theSindex it has a DataRank of 0.853, placing it in the top 23.6% of the data-sharing corpus. It has been cited 51 times, with 10 citing works in its 1-hop citation network.

Top 24%percentile

0.853DataRank

Ranks in the top 24% for downstream scientific impact

Data paper Open Access51 citations · 10 citing works in its network

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Linked data & code

omim refseq

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (16 grants)Impact (FWCI 5.95)OA: greenTopics (33)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (1/3)

Dataset classification

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DataRank Breakdown

Base Score 69%Citation Network 31%

Base Score Contribution

0.593

From this paper's citation signal

Citation Network Contribution

0.260

From 6 citing papers with measurable signal

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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 10 citers.

Firm productivity, organizational choice and global value chain
RePEc: Research Papers in Economics20118 citations17 referencesContributes 0.129
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
Genes20237 citations38 referencesContributes 0.055
Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events
Journal of genetics and genomics/Journal of Genetics and Genomics20257 citations46 referencesContributes 0.045
c.202_204del in NUP214 causes late onset form of febrile encephalopathy
American Journal of Medical Genetics Part A20241 citations17 referencesContributes 0.041
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
European Journal of Medical Genetics20221 citations38 referencesContributes 0.018

Authors (16)

Anju Shukla ORCID,Neerja Gupta ORCID,Gandham SriLakshmi Bhavani ORCID,Samarth Kulshrestha ORCID,Aneek Das Bhowmik ORCID

Live enrichment

PubMed:33502066 PMC:PMC10052794 OpenAlex:https://openalex.org/W3121752272

Science and Engineering Research Board

Grant: SB/SO/HS/005/2014

Science and Engineering Research Board

Grant: YSS/2015/001681

Science and Engineering Research Board

Grant: YSS/2015/002009

National Institutes of Health

Grant: 1R21NS094047‐01

National Institutes of Health

Grant: R01 HD093570 01 A1