ArticleNature communications2016
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it.
- CMDB: the comprehensive population genome variation database of China.Nucleic acids research · 2023Pooled it
- Dark and camouflaged genomic regions remain challenging in CHM13.Scientific reports · 2026Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Sequencing the gaps: dark genomic regions persist in CHM13 despite long-read advances.bioRxiv : the preprint server for biology · 2025Article
- High performance imputation of structural and single nucleotide variants using low-coverage whole genome sequencing.Genetics, selection, evolution : GSE · 2025Article
- Genetic andFrontiers in genetics · 2025Article
- Plant pangenomes for crop improvement, biodiversity and evolution.Nature reviews. Genetics · 2024Review
- VISTA: an integrated framework for structural variant discovery.Briefings in bioinformatics · 2024Article
- Multiplexed CRISPR-Cas9 mutagenesis of riceScience advances · 2024Article
- NIPT-PG: empowering non-invasive prenatal testing to learn from population genomics through an incremental pan-genomic approach.Briefings in bioinformatics · 2024Article
- Structural variants involved in high-altitude adaptation detected using single-molecule long-read sequencing.Nature communications · 2023Article
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
- Assembly-free discovery of human novel sequences using long reads.DNA research : an international journal for rapid publication of reports on genes and genomes · 2022Article
- Complex genomic rearrangements: an underestimated cause of rare diseases.Trends in genetics : TIG · 2022Review
- Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology.Communications biology · 2022Article
- Variant calling: Considerations, practices, and developments.Human mutation · 2022Review
- A comprehensive benchmarking of WGS-based deletion structural variant callers.Briefings in bioinformatics · 2022Article
- inGAP-family: Accurate Detection of Meiotic Recombination Loci and Causal Mutations by Filtering Out Artificial Variants due to Genome Complexities.Genomics, proteomics & bioinformatics · 2022Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors.
Funding
Abstract
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic variation. Here, we analyse whole genome sequencing data of 769 individuals from 250 Dutch families, and provide a haplotype-resolved map of 1.9 million genome variants across 9 different variant classes, including novel forms of complex indels, and retrotransposition-mediated insertions of mobile elements and processed RNAs. A large proportion are previously under reported variants sized between 21 and 100 bp. We detect 4 megabases of novel sequence, encoding 11 new transcripts. Finally, we show 191 known, trait-associated SNPs to be in strong linkage disequilibrium with SVs and demonstrate that our panel facilitates accurate imputation of SVs in unrelated individuals.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.