ArticleAmerican journal of human genetics2001
High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 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
40 citing papers in PubMed, 113 citations in OpenAlex.
- Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.Genetic testing and molecular biomarkers · 2014Trial
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- A novel intronic mutation ofMolecular vision · 2019Article
- Estimating Time to the Common Ancestor for a Beneficial Allele.Molecular biology and evolution · 2018Article
- Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.Journal of inherited metabolic disease · 2017Article
- Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.European journal of human genetics : EJHG · 2017Article
- The genetics of drug efficacy: opportunities and challenges.Nature reviews. Genetics · 2016Review
- Article
- Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.The Journal of clinical endocrinology and metabolism · 2015Article
- The utility of ancient human DNA for improving allele age estimates, with implications for demographic models and tests of natural selection.Journal of human evolution · 2015Article
- MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.European journal of human genetics : EJHG · 2014Article
- Genome-wide inference of ancestral recombination graphs.PLoS genetics · 2014Article
- Inferring selection intensity and allele age from multilocus haplotype structure.G3 (Bethesda, Md.) · 2013Article
- Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.PLoS genetics · 2013Article
- Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed.The Journal of clinical endocrinology and metabolism · 2012Review
- Article
- New contributions to the study of common double mutants in the human LDL receptor gene.Die Naturwissenschaften · 2011Article
- Analysis of exome sequences with and without incorporating prior biological knowledge.Genetic epidemiology · 2011Article
- Article
- Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.Molecular genetics and genomics : MGG · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
A new method is presented for fine-scale linkage disequilibrium (LD) mapping of a disease mutation; it uses multiple linked single-nucleotide polymorphisms, restriction-fragment-length polymorphisms, or microsatellite markers and incorporates information from an annotated human genome sequence (HGS) and from a human mutation database. The method takes account of population demographic effects, using Markov chain Monte Carlo methods to integrate over the unknown gene genealogy and gene coalescence times. Information about the relative frequency of disease mutations in exons, introns, and other regions, from mutational databases, as well as assumptions about the completeness of the gene annotation, are used with an annotated HGS, to generate a prior probability that a mutation lies at any particular position in a specified region of the genome. This information is updated with information about mutation location, from LD at a set of linked markers in the region, to generate the posterior probability density of the mutation location. The performance of the method is evaluated by simulation and by analysis of a data set for diastrophic dysplasia (DTD) in Finland. The DTD disease gene has been positionally cloned, so the actual location of the mutation is known and can be compared with the position predicted by our method. For the DTD data, the addition of information from an HGS results in disease-gene localization at a resolution that is much higher than that which would be possible by LD mapping alone. In this case, the gene would be found by sequencing a region < or =7 kb in size.
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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.