ArticleNature biotechnology2011
Haplotype-resolved genome sequencing of a Gujarati Indian individual.
Article in Nature biotechnology, 2011. 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 144 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.
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.
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Who cites it
144 citing papers in PubMed.
- Current Progress in Phased Genome Assembly from Long-Read DNA Sequencing Data.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Deep learning for genomic selection of aquatic animals.Marine life science & technology · 2024Review
- Analysis of 1276 Haplotype-Resolved Genomes Allows Characterization of Cis- and Trans-Abundant Genes.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Phased Genome Assemblies.Methods in molecular biology (Clifton, N.J.) · 2023Article
- A Simple Cost-Effective Method for Whole-Genome Sequencing, Haplotyping, and Assembly.Methods in molecular biology (Clifton, N.J.) · 2023Article
- HapCUT2: A Method for Phasing Genomes Using Experimental Sequence Data.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Microfluidic delivery of cutting enzymes for fragmentation of surface-adsorbed DNA molecules.PloS one · 2023Article
- Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing.Nucleic acids research · 2022Article
- Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.Frontiers in genetics · 2022Article
- Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.BMC medical genomics · 2021Article
- Determination of complete chromosomal haplotypes by bulk DNA sequencing.Genome biology · 2021Article
- nPhase: an accurate and contiguous phasing method for polyploids.Genome biology · 2021Article
- Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.Genome medicine · 2021Article
- LDscaff: LD-based scaffolding of de novo genome assemblies.BMC bioinformatics · 2020Article
- Inference of Chromosome-Length Haplotypes Using Genomic Data of Three or a Few More Single Gametes.Molecular biology and evolution · 2020Article
- Genome reconstruction and haplotype phasing using chromosome conformation capture methodologies.Briefings in functional genomics · 2020Article
- Structural variation in the sequencing era.Nature reviews. Genetics · 2020Review
- KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing.Database : the journal of biological databases and curation · 2020Article
- Genomics of rare genetic diseases-experiences from India.Human genomics · 2019Review
- Integrating read-based and population-based phasing for dense and accurate haplotyping of individual genomes.Bioinformatics (Oxford, England) · 2019Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
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- Erratum issued
Authors and funding
11 authors.
Funding
Abstract
Haplotype information is essential to the complete description and interpretation of genomes, genetic diversity and genetic ancestry. Although individual human genome sequencing is increasingly routine, nearly all such genomes are unresolved with respect to haplotype. Here we combine the throughput of massively parallel sequencing with the contiguity information provided by large-insert cloning to experimentally determine the haplotype-resolved genome of a South Asian individual. A single fosmid library was split into a modest number of pools, each providing ∼3% physical coverage of the diploid genome. Sequencing of each pool yielded reads overwhelmingly derived from only one homologous chromosome at any given location. These data were combined with whole-genome shotgun sequence to directly phase 94% of ascertained heterozygous single nucleotide polymorphisms (SNPs) into long haplotype blocks (N50 of 386 kilobases (kbp)). This method also facilitates the analysis of structural variation, for example, to anchor novel insertions to specific locations and haplotypes.
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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.