ArticleProceedings of the National Academy of Sciences of the United States of America2002
The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 1 of them a synthesis that pooled it.
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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
80 citing papers in PubMed, 1 synthesis or guideline pooled it, 185 citations in OpenAlex.
- CHROMSCAN: genome-wide association using a linkage disequilibrium map.Journal of human genetics · 2008Pooled it
- Trial
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- Genome-Wide Linkage Disequilibrium and the Extent of Effective Population Sizes in Six Chinese Goat Populations Using a 50K Single Nucleotide Polymorphism Panel.Animals : an open access journal from MDPI · 2019Article
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- Newton E. Morton (1929-2018).American journal of human genetics · 2018Article
- High-Resolution Genetic Maps Identify Multiple Type 2 Diabetes Loci at Regulatory Hotspots in African Americans and Europeans.American journal of human genetics · 2017Article
- Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.Heredity · 2016Article
- Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.BMC genomics · 2015Article
- Linkage disequilibrium network analysis (LDna) gives a global view of chromosomal inversions, local adaptation and geographic structure.Molecular ecology resources · 2015Article
- The genomic and phenotypic diversity of Schizosaccharomyces pombe.Nature genetics · 2015Article
- ABCC5 transporter is a novel type 2 diabetes susceptibility gene in European and African American populations.Annals of human genetics · 2014Article
- The utility of low-density genotyping for imputation in the Thoroughbred horse.Genetics, selection, evolution : GSE · 2014Article
- Critical assessment of coalescent simulators in modeling recombination hotspots in genomic sequences.BMC bioinformatics · 2014Article
- Analysis of single nucleotide polymorphisms in the region of CLDN2-MORC4 in relation to inflammatory bowel disease.World journal of gastroenterology · 2013Article
- Article
- Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.Human genetics · 2013Article
- Refinement in localization and identification of gene regions associated with Crohn disease.American journal of human genetics · 2013Article
- Differential allelic expression of IL13 and CSF2 genes associated with asthma.Genetics and molecular biology · 2012Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Linkage disequilibrium (LD) provides information about positional cloning, linkage, and evolution that cannot be inferred from other evidence, even when a correct sequence and a linkage map based on more than a handful of families become available. We present theory to construct an LD map for which distances are additive and population-specific maps are expected to be approximately proportional. For this purpose, there is only a modest difference in relative efficiency of haplotypes and diplotypes: resolving the latter into 2-locus haplotypes has significant cost or error and increases information by about 50%. LD maps for a cold spot in 19p13.3 and a more typical region in 3q21 are optimized by interval estimates. For a random sample and trustworthy map the value of LD at large distance can be predicted reliably from information over a small distance and does not depend on the evolutionary variance unless the sample size approaches the population size. Values of the association probability that can be distinguished from the value at large distance are determined not by population size but by time since a critical bottleneck. In these examples, omission of markers with significant Hardy-Weinberg disequilibrium does not improve the map, and widely discrepant draft sequences have similar estimates of the genetic parameters. The LD cold spot in 19p13.3 gives an unusually high estimate of time, supporting an argument that this relationship is general. As predicted for a region with ancient haplotypes or uniformly high recombination, there is no clear evidence of LD clustering. On the contrary, the 3q21 region is resolved into alternating blocks of stable and decreasing LD, as expected from crossover clustering. Construction of a genomewide LD map requires data not yet available, which may be complemented but not replaced by a catalog of haplotypes.
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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.