ArticleNature communications2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 91 papers.
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.
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Who cites it
91 citing papers in PubMed, 138 citations in OpenAlex.
- MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.Molecular genetics and genomics : MGG · 2026Article
- Clinical and genetic spectrum of distal renal tubular acidosis in children: findings from Indian tubular disorders registry.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants.Nature communications · 2026Article
- Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome.American journal of medical genetics. Part A · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Determinants of haplotype phasing accuracy in long-read human genome sequencing.bioRxiv : the preprint server for biology · 2026Article
- Diagnoses of double heterozygous NF1 variants and dual RASopathy.Molecular and cellular pediatrics · 2026Review
- Integrative and accurate annotations enhance current nonsense-mediated mRNA decay rules.Nucleic acids research · 2025Article
- Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Highly Recurrent Multinucleotide Mutations in SARS-CoV-2.Molecular biology and evolution · 2025Article
- Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.Scientific reports · 2025Article
- Comparative Phylogenetics Reveal Clade-specific Drivers of Recombination Rate Evolution Across Vertebrates.Molecular biology and evolution · 2025Article
- Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.Journal of the American Heart Association · 2025Article
- Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.International journal of legal medicine · 2025Article
- A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization.Methods in molecular biology (Clifton, N.J.) · 2025Article
- DNPcall: a new pipeline for accurate double nucleotide polymorphism calling.Bioinformatics advances · 2025Article
- Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia.International journal of legal medicine · 2024Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
12 authors at 20 institutions in 18 countries.
Funding
Abstract
Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the same haplotype in an individual, are a clinically and biologically important class of genetic variation. However, existing tools typically do not accurately classify MNVs, and understanding of their mutational origins remains limited. Here, we systematically survey MNVs in 125,748 whole exomes and 15,708 whole genomes from the Genome Aggregation Database (gnomAD). We identify 1,792,248 MNVs across the genome with constituent variants falling within 2 bp distance of one another, including 18,756 variants with a novel combined effect on protein sequence. Finally, we estimate the relative impact of known mutational mechanisms - CpG deamination, replication error by polymerase zeta, and polymerase slippage at repeat junctions - on the generation of MNVs. Our results demonstrate the value of haplotype-aware variant annotation, and refine our understanding of genome-wide mutational mechanisms of MNVs.
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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.