ArticleNature communications2019
Genome maps across 26 human populations reveal population-specific patterns of structural variation.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 1 of them a synthesis that pooled it.
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Who cites it
100 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Advancing crop improvement through GWAS and beyond in mung bean.Frontiers in plant science · 2024Pooled it
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Ring chromosomes uncovered by optical genome mapping: impact of telomeric-associated regions and reference genome selection on structural variant interpretation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Intrahost mutational dynamics parallel long-term genome evolution in endosymbionts.Molecular biology and evolution · 2026Article
- Detection of structural DNA variants in medulloblastomas using optical genome mapping.Acta neuropathologica communications · 2026Article
- Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.European journal of medical research · 2026Article
- SVCROWS: a user-defined tool for interpreting significant structural variants in heterogeneous datasets.Nucleic acids research · 2026Article
- Recent advances in the detection technologies for balanced chromosomal rearrangements.Frontiers in genetics · 2026Review
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.Molecular genetics & genomic medicine · 2025Article
- Article
- The Emergence of Nanofluidics for Single-Biomolecule Manipulation and Sensing.Analytical chemistry · 2025Review
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- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- Multifocal Genomic Reconstruction Leading to Germline Structural Variants.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Next-generation data filtering in the genomics era.Nature reviews. Genetics · 2024Review
- Genomic structural variations link multiple genes to bone mineral density in a multi-ethnic cohort study: Louisiana osteoporosis study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Novel and Recurrent Copy Number Variants inInternational journal of molecular sciences · 2024Article
- Article
40 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors.
Funding
Abstract
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in one experiment. Analyzing optical genome maps of 154 individuals from the 26 populations sequenced in the 1000 Genomes Project, we find that phylogenetic population patterns of large SVs are similar to those of single nucleotide variations in 86% of the human genome, while ~2% of the genome has high structural complexity. We are able to characterize SVs in many intractable regions of the genome, including segmental duplications and subtelomeric, pericentromeric, and acrocentric areas. In addition, we discover ~60 Mb of non-redundant genome content missing in the reference genome sequence assembly. Our results highlight the need for a comprehensive set of alternate haplotypes from different populations to represent SV patterns in the genome.
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