ArticleGenome research2014
Single haplotype assembly of the human genome from a hydatidiform mole.
Article in Genome research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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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
82 citing papers in PubMed.
- Evaluating genome assemblies with HMM-Flagger.bioRxiv : the preprint server for biology · 2026Article
- Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.Nature biotechnology · 2026Article
- Conservation of dichromatin organization along regional centromeres.Cell genomics · 2025Article
- Overcoming challenges associated with broad sharing of human genomic data.Nature genetics · 2025Review
- Three-dimensional genome architecture persists in a 52,000-year-old woolly mammoth skin sample.Cell · 2024Article
- The NCBI Comparative Genome Viewer (CGV) is an interactive visualization tool for the analysis of whole-genome eukaryotic alignments.PLoS biology · 2024Article
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- Comparison of retrospective and prospective memory in subtypes of obsessive-compulsive disorder.European journal of translational myology · 2024Article
- Evolutionary insights from profiling LINE-1 activity at allelic resolution in a single human genome.The EMBO journal · 2024Article
- T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese.Genomics, proteomics & bioinformatics · 2023Article
- Interactive visualization of whole eukaryote genome alignments using NCBI's Comparative Genome Viewer (CGV).bioRxiv : the preprint server for biology · 2023Article
- The variation and evolution of complete human centromeres.bioRxiv : the preprint server for biology · 2023Article
- SPUMONI 2: improved classification using a pangenome index of minimizer digests.Genome biology · 2023Article
- Insights from a genome-wide truth set of tandem repeat variation.bioRxiv : the preprint server for biology · 2023Article
- Mucins as contrast agent targets for fluorescence-guided surgery of pancreatic cancer.Cancer letters · 2023Review
- Targeted long-read sequencing facilitates phased diploid assembly and genotyping of the human T cell receptor alpha, delta, and beta loci.Cell genomics · 2022Article
- Enrichment of centromeric DNA from human cells.PLoS genetics · 2022Article
- Short arms of human acrocentric chromosomes and the completion of the human genome sequence.Genome research · 2022Article
- The complete sequence of a human genome.Science (New York, N.Y.) · 2022Article
22 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
13 authors.
Funding
Abstract
A complete reference assembly is essential for accurately interpreting individual genomes and associating variation with phenotypes. While the current human reference genome sequence is of very high quality, gaps and misassemblies remain due to biological and technical complexities. Large repetitive sequences and complex allelic diversity are the two main drivers of assembly error. Although increasing the length of sequence reads and library fragments can improve assembly, even the longest available reads do not resolve all regions. In order to overcome the issue of allelic diversity, we used genomic DNA from an essentially haploid hydatidiform mole, CHM1. We utilized several resources from this DNA including a set of end-sequenced and indexed BAC clones and 100× Illumina whole-genome shotgun (WGS) sequence coverage. We used the WGS sequence and the GRCh37 reference assembly to create an assembly of the CHM1 genome. We subsequently incorporated 382 finished BAC clone sequences to generate a draft assembly, CHM1_1.1 (NCBI AssemblyDB GCA_000306695.2). Analysis of gene, repetitive element, and segmental duplication content show this assembly to be of excellent quality and contiguity. However, comparison to assembly-independent resources, such as BAC clone end sequences and PacBio long reads, indicate misassembled regions. Most of these regions are enriched for structural variation and segmental duplication, and can be resolved in the future. This publicly available assembly will be integrated into the Genome Reference Consortium curation framework for further improvement, with the ultimate goal being a completely finished gap-free assembly.
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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.