ArticleNature genetics2017
Diversity in non-repetitive human sequences not found in the reference genome.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
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- Pan-genome of wild and cultivated rice uncovers genetic diversity, lost and selected sequences during rice domestication.Rice (New York, N.Y.) · 2026Article
- Application of a French cattle pangenome, from structural variant discovery to association studies on key phenotypes.Genetics, selection, evolution : GSE · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Blackbird: structural variant detection using synthetic and low-coverage long-reads.Bioinformatics advances · 2025Article
- Sequence variants influencing the regulation of serum IgG subclass levels.Nature communications · 2024Article
- GGTyper: genotyping complex structural variants using short-read sequencing data.Bioinformatics (Oxford, England) · 2024Article
- Human pangenome analysis of sequences missing from the reference genome reveals their widespread evolutionary, phenotypic, and functional roles.Nucleic acids research · 2024Article
- Pig pangenome graph reveals functional features of non-reference sequences.Journal of animal science and biotechnology · 2024Article
- Transposable element insertions in 1000 Swedish individuals.PloS one · 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
- Efficient detection and assembly of non-reference DNA sequences with synthetic long reads.Nucleic acids research · 2022Article
- Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis.Nature communications · 2022Article
- The human "contaminome": bacterial, viral, and computational contamination in whole genome sequences from 1000 families.Scientific reports · 2022Article
- Application of full-genome analysis to diagnose rare monogenic disorders.NPJ genomic medicine · 2021Article
- Building a Chinese pan-genome of 486 individuals.Communications biology · 2021Article
- Eight soybean reference genome resources from varying latitudes and agronomic traits.Scientific data · 2021Article
- Novel functional sequences uncovered through a bovine multiassembly graph.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomes usually contain some non-repetitive sequences that are missing from the reference genome and occur only in a population subset. Such non-repetitive, non-reference (NRNR) sequences have remained largely unexplored in terms of their characterization and downstream analyses. Here we describe 3,791 breakpoint-resolved NRNR sequence variants called using PopIns from whole-genome sequence data of 15,219 Icelanders. We found that over 95% of the 244 NRNR sequences that are 200 bp or longer are present in chimpanzees, indicating that they are ancestral. Furthermore, 149 variant loci are in linkage disequilibrium (r
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