ArticleNature methods2016
A hybrid approach for de novo human genome sequence assembly and phasing.
Article in Nature methods, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers.
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Who cites it
120 citing papers in PubMed.
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- Multi-tool copy number detection highlights common body size-associated variants in miniature pig breeds from different geographical regions.BMC genomics · 2025Article
- Physiological premature aging of ovarian blood vessels leads to decline in fertility in middle-aged mice.Nature communications · 2025Article
- A gapless genome assembly of aFrontiers in plant science · 2025Article
- Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples.Genome research · 2024Article
- Loss of genetic variation and ancestral sex determination system in North American northern pike characterized by whole-genome resequencing.G3 (Bethesda, Md.) · 2024Article
- Somatic mutation phasing and haplotype extension using linked-reads in multiple myeloma.bioRxiv : the preprint server for biology · 2024Article
- Genome sequencing and functional analysis of a multipurpose medicinal herb Tinospora cordifolia (Giloy).Scientific reports · 2024Article
- Analyzing the cellular and molecular atlas of ovarian mesenchymal cells provides a strategy against female reproductive aging.Science China. Life sciences · 2023Article
- De novo genome assembly and comparative genomics for the colonial ascidian Botrylloides violaceus.G3 (Bethesda, Md.) · 2023Article
- Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.NPJ genomic medicine · 2023Article
- A Bos taurus sequencing methods benchmark for assembly, haplotyping, and variant calling.Scientific data · 2023Article
- Reference genome for the California ribbed mussel, Mytilus californianus, an ecosystem engineer.The Journal of heredity · 2022Article
- Review
- Genomic analyses of wild argali, domestic sheep, and their hybrids provide insights into chromosome evolution, phenotypic variation, and germplasm innovation.Genome research · 2022Article
- Pulmonate slug evolution is reflected in the de novo genome of Arion vulgaris Moquin-Tandon, 1855.Scientific reports · 2022Article
- De novo assembly of human genome at single-cell levels.Nucleic acids research · 2022Article
- Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.Molecular genetics & genomic medicine · 2022Article
60 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors.
Funding
Abstract
Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.
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