An integrated map of structural variation in 2,504 human genomes
An integrated map of structural variation in 2,504 human genomes is a dataset published in Nature (2015). On theSindex it has a DataRank of 12.2, placing it in the top 16.8% of the data-sharing corpus. It has been cited 2,648 times, with 150 citing works in its 1-hop citation network. Its calibrated FAIR score is 72/100.
Abstract
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci. Additionally, we uncover appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints likely to have formed through individual mutational events. Our catalogue will enhance future studies into structural variant demography, functional impact and disease association.
›Data sources & pipeline
FAIR Checklist
Context only (not used in score)- Has DOI
- Open Access
- Dataset classification
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Calibrated FAIR score — a parallel quality metric, independent of the DataRank citation score. See the full evaluation →
DataRank Breakdown
Base Score Contribution
1.2
From this paper's citation signal
Citation Network Contribution
11.0
From 150 citing papers with measurable signal
Top 5 citers driving the network score
Ranked by citation count — the same ordering the engine uses when summing log1p(Cq) over citers.
- A global reference for human genetic variationNature201519,823 citationsDataRank 11.1Top 19%
- An integrated encyclopedia of DNA elements in the human genomeNature201219,311 citationsDataRank 23.8Top 3%
- Fast and accurate long-read alignment with Burrows–Wheeler transformBioinformatics201012,767 citationsDataRank 1.4
- An integrated map of genetic variation from 1,092 human genomesNature20128,207 citationsDataRank 25.2Top 2%
- A map of human genome variation from population-scale sequencingNature20108,067 citationsDataRank 32.4Top 1%
Why this DataRank?
DataRank blends this paper's own citation count with the influence of the papers that cite it. Here, roughly 10% comes from its base citations and 90% from the citation network (150 citing papers contributed measurable signal).
- Base score B(p)
- log1p(citation_count) — grows sub-linearly, so a paper with 1,000 citations is not 10× a paper with 100.
- Network N(p)
- Σ over citers of log1p(Cq) ÷ max(outdegreeq, 1). Being cited by a highly-cited paper with few references counts most.
- Damping factor d = 0.85
- DataRank = (1−d)·B(p) + d·N(p) — the two cards above are each already multiplied by their share.
- Self-citations excluded
- Citers sharing any OpenAlex author ID with this paper are filtered out before the network sum.
Citers are pulled from OpenAlex sorted by cited_by_count:descand capped per paper, so when the cap binds we keep the highest-signal references and the score is reproducible across reruns.
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