ArticleAmerican journal of human genetics2011
Chromosomal haplotypes by genetic phasing of human families.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- A rapid review of genetic association studies of parent-of-origin effects and fetal growth.Molecular and cellular pediatrics · 2026Review
- Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family.Journal of cancer research and clinical oncology · 2023Article
- sgcocaller and comapr: personalised haplotype assembly and comparative crossover map analysis using single-gamete sequencing data.Nucleic acids research · 2022Article
- trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios.BMC bioinformatics · 2021Article
- High-resolution population-specific recombination rates and their effect on phasing and genotype imputation.European journal of human genetics : EJHG · 2021Article
- Distinct error rates for reference and nonreference genotypes estimated by pedigree analysis.Genetics · 2021Article
- Whole Genome Interpretation for a Family of Five.Frontiers in genetics · 2021Article
- A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.Scientific reports · 2020Article
- Oligonucleotide hybridization with magnetic separation assay for multiple SNP phasing.Analytica chimica acta: X · 2020Article
- Article
- A chaotic viewpoint-based approach to solve haplotype assembly using hypergraph model.PloS one · 2020Article
- Assessment of human diploid genome assembly with 10x Linked-Reads data.GigaScience · 2019Article
- A New Fast Phasing Method Based On Haplotype Subtraction.The Journal of molecular diagnostics : JMD · 2019Article
- Phased diploid genome assembly with single-molecule real-time sequencing.Nature methods · 2016Article
- Rare variant phasing and haplotypic expression from RNA sequencing with phASER.Nature communications · 2016Article
- Read-based phasing of related individuals.Bioinformatics (Oxford, England) · 2016Article
- Haplotyping germline and cancer genomes with high-throughput linked-read sequencing.Nature biotechnology · 2016Article
- Crowdsourced direct-to-consumer genomic analysis of a family quartet.BMC genomics · 2015Article
- Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.PLoS genetics · 2015Article
- Odintifier--A computational method for identifying insertions of organellar origin from modern and ancient high-throughput sequencing data based on haplotype phasing.BMC bioinformatics · 2015Article
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Authors and funding
12 authors.
Funding
Abstract
Assignment of alleles to haplotypes for nearly all the variants on all chromosomes can be performed by genetic analysis of a nuclear family with three or more children. Whole-genome sequence data enable deterministic phasing of nearly all sequenced alleles by permitting assignment of recombinations to precise chromosomal positions and specific meioses. We demonstrate this process of genetic phasing on two families each with four children. We generate haplotypes for all of the children and their parents; these haplotypes span all genotyped positions, including rare variants. Misassignments of phase between variants (switch errors) are nearly absent. Our algorithm can also produce multimegabase haplotypes for nuclear families with just two children and can handle families with missing individuals. We implement our algorithm in a suite of software scripts (Haploscribe). Haplotypes and family genome sequences will become increasingly important for personalized medicine and for fundamental biology.
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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.