ArticleAnnals of human genetics2020
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Article in Annals of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
84 citing papers in PubMed, 1 synthesis or guideline pooled it, 144 citations in OpenAlex.
- A lizard is never late: Squamate genomics as a recent catalyst for understanding sex chromosome and microchromosome evolution.The Journal of heredity · 2023Pooled it
- Article
- Population-level structural variant characterization using pangenome graphs.Nature genetics · 2026Article
- Improving gene isoform quantification with miniQuant.Nature biotechnology · 2026Article
- Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle.Journal of advanced research · 2026Article
- Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.The Journal of molecular diagnostics : JMD · 2025Article
- IMGTNAR genomics and bioinformatics · 2025Article
- A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias.bioRxiv : the preprint server for biology · 2025Article
- Retrotransposon methylation profiles and survival in Black women with high-grade serous ovarian carcinoma.Clinical epigenetics · 2025Article
- The whole genome sequence of Cordyceps cicadae - an edible and potential medicinal fungus.Molecular genetics and genomics : MGG · 2025Article
- The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.Genome research · 2025Review
- Recent Advances in Genome Editing and Bioinformatics: Addressing Challenges in Genome Editing Implementation and Genome Sequencing.International journal of molecular sciences · 2025Review
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Chromosome-Level Genome Assembly and Annotation of the Highly HeterozygousJournal of fungi (Basel, Switzerland) · 2025Article
- A reference quality, fully annotated diploid genome from a Saudi individual.Scientific data · 2024Article
- DNA-m6A calling and integrated long-read epigenetic and genetic analysis withGenome research · 2024Article
- Haplotype-aware sequence alignment to pangenome graphs.Genome research · 2024Article
- Chromosome-Scale Genome and Transcriptomic Analyses Reveal Differential Regulation of Terpenoid Secondary Metabolites inJournal of fungi (Basel, Switzerland) · 2024Article
- GCphase: an SNP phasing method using a graph partition and error correction algorithm.BMC bioinformatics · 2024Article
- Maptcha: an efficient parallel workflow for hybrid genome scaffolding.BMC bioinformatics · 2024Article
24 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
17 authors at 7 institutions in 4 countries.
Funding
Abstract
The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or continuous long-read (CLR) datasets from the same complete hydatidiform mole human genome. We find that the HiFi sequence data assemble an additional 10% of duplicated regions and more accurately represent the structure of tandem repeats, as validated with orthogonal analyses. As a result, an additional 5 Mbp of pericentromeric sequences are recovered in the HiFi assembly, resulting in a 2.5-fold increase in the NG50 within 1 Mbp of the centromere (HiFi 480.6 kbp, CLR 191.5 kbp). Additionally, the HiFi genome assembly was generated in significantly less time with fewer computational resources than the CLR assembly. Although the HiFi assembly has significantly improved continuity and accuracy in many complex regions of the genome, it still falls short of the assembly of centromeric DNA and the largest regions of segmental duplication using existing assemblers. Despite these shortcomings, our results suggest that HiFi may be the most effective standalone technology for de novo assembly of human genomes.
Indexed as
Identifiers
What OpenQuestion holds
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.