ArticleNucleic acids research2007
An efficient method for multi-locus molecular haplotyping.
Article in Nucleic acids research, 2007. 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 10 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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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
10 citing papers in PubMed, 19 citations in OpenAlex.
- Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique.Journal of human genetics · 2022Article
- Timing, rates and spectra of human germline mutation.Nature genetics · 2016Article
- Whole-genome haplotyping by dilution, amplification, and sequencing.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis.PloS one · 2013Article
- Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Science translational medicine · 2012Article
- Completely phased genome sequencing through chromosome sorting.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Parent-of-origin effects in SOX2 anophthalmia syndrome.Molecular vision · 2011Article
- Search for genetic markers and functional variants involved in the development of opiate and cocaine addiction and treatment.Annals of the New York Academy of Sciences · 2010Review
- An MCMC algorithm for haplotype assembly from whole-genome sequence data.Genome research · 2008Article
- A general quantitative genetic model for haplotyping a complex trait in humans.Current genomics · 2007Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Many methods exist for genotyping--revealing which alleles an individual carries at different genetic loci. A harder problem is haplotyping--determining which alleles lie on each of the two homologous chromosomes in a diploid individual. Conventional approaches to haplotyping require the use of several generations to reconstruct haplotypes within a pedigree, or use statistical methods to estimate the prevalence of different haplotypes in a population. Several molecular haplotyping methods have been proposed, but have been limited to small numbers of loci, usually over short distances. Here we demonstrate a method which allows rapid molecular haplotyping of many loci over long distances. The method requires no more genotypings than pedigree methods, but requires no family material. It relies on a procedure to identify and genotype single DNA molecules, and reconstruction of long haplotypes by a 'tiling' approach. We demonstrate this by resolving haplotypes in two regions of the human genome, harbouring 20 and 105 single-nucleotide polymorphisms, respectively. The method can be extended to reconstruct haplotypes of arbitrary complexity and length, and can make use of a variety of genotyping platforms. We also argue that this method is applicable in situations which are intractable to conventional approaches.
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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.