ReviewNature reviews. Genetics2015
Genetic variation and the de novo assembly of human genomes.
Review in Nature reviews. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 179 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
179 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Vertical lossless genomic data compression tools for assembled genomes: A systematic literature review.PloS one · 2020Pooled it
- The rate and spectrum of germline mutations in chicken from a commercial pedigree line.Genetics, selection, evolution : GSE · 2026Article
- High Rate of Mutation and Efficient Removal by Selection of Structural Variants From Natural Populations of Caenorhabditis Elegans.Genome biology and evolution · 2026Article
- DNA Replication Errors Drive Genome-Wide Small Inverted Triplication Dynamics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.bioRxiv : the preprint server for biology · 2026Article
- Benchmarking long-read assembly tools and preprocessing strategies for bacterial genomes: A case study onBiotechnology reports (Amsterdam, Netherlands) · 2025Article
- Prior knowledge on context-driven DNA fragmentation probabilities can improve de novo genome assembly algorithms.BMC bioinformatics · 2025Article
- Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025Article
- Up, Down, and All Around: Courtship Behavior Deviants and Genetic Divergence in the Reef-Dwelling Bioluminescent Ostracod,Ecology and evolution · 2025Article
- Antimicrobial resistance and molecular epidemiology of Klebsiella pneumoniae isolated from bovine mastitis in seven provinces in China.BMC microbiology · 2025Article
- Antimicrobial Resistance Genes in ClinicalAntibiotics (Basel, Switzerland) · 2025Article
- The Ribosomal Operon Database: A Full-Length rDNA Operon Database Derived From Genome Assemblies.Molecular ecology resources · 2025Article
- Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.Human genomics · 2024Review
- Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.Genome medicine · 2024Article
- Loss of genetic variation and ancestral sex determination system in North American northern pike characterized by whole-genome resequencing.G3 (Bethesda, Md.) · 2024Article
- A new era of mutation rate analyses: Concepts and methods.Zoological research · 2024Review
- Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.Scientific reports · 2024Article
- Review
- Bread wheat satellitome: a complex scenario in a huge genome.Plant molecular biology · 2024Article
- Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.Internal medicine (Tokyo, Japan) · 2024Article
119 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
3 authors.
Funding
Abstract
The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quality genome assemblies or resolve most structural variation. Full resolution of variation is only guaranteed by complete de novo assembly of a genome. Here, we review approaches to genome assembly, the nature of gaps or missing sequences, and biases in the assembly process. We describe the challenges of generating a complete de novo genome assembly using current technologies and the impact that being able to perfectly sequence the genome would have on understanding human disease and evolution. Finally, we summarize recent technological advances that improve both contiguity and accuracy and emphasize the importance of complete de novo assembly as opposed to read mapping as the primary means to understanding the full range of human genetic variation.
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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.