Literature DB >> 16091463

A map of the human genome in linkage disequilibrium units.

W Tapper1, A Collins, J Gibson, N Maniatis, S Ennis, N E Morton.   

Abstract

Two genetic maps with additive distances contribute information about recombination patterns, recombinogenic sequences, and discovery of genes affecting a particular phenotype. Recombination is measured in morgans (w) over a single generation in a linkage map but may cover thousands of generations in a linkage disequilibrium (LD) map measured in LD units (LDU). We used a subset of single nucleotide polymorphisms from the HapMap Project to create a genome-wide map in LDU. Recombination accounts for 96.8% of the LDU variance in chromosome arms and 92.4% in their deciles. However, deeper analysis shows that LDU/w, an estimate of the effective bottleneck time (t), is significantly variable among chromosome arms because (i) the linkage map is approximated from the Haldane function, then adjusted toward the Kosambi function that is more accurate but still exaggerates w for all chromosomes, especially shorter ones; (ii) the non-pseudoautosomal region of the X chromosome is subject to hemizygous selection; and (iii) at resolution less than approximately 40,000 markers per w, there are indeterminacies (holes) in the LD map reflecting intervals of very high recombination. Selection and stochastic variation in small regions must have effects, which remain to be investigated by comparisons among populations. These considerations suggest an optimal strategy to eliminate holes quickly, greatly enhance the resolution of sex-specific linkage maps, and maximize the gain in association mapping by using LD maps.

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Year:  2005        PMID: 16091463      PMCID: PMC1188000          DOI: 10.1073/pnas.0505262102

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  27 in total

1.  The optimal measure of allelic association.

Authors:  N E Morton; W Zhang; P Taillon-Miller; S Ennis; P Y Kwok; A Collins
Journal:  Proc Natl Acad Sci U S A       Date:  2001-04-17       Impact factor: 11.205

2.  Hardy-Weinberg quality control.

Authors:  I Gomes; A Collins; C Lonjou; N S Thomas; J Wilkinson; M Watson; N Morton
Journal:  Ann Hum Genet       Date:  1999-11       Impact factor: 1.670

3.  The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.

Authors:  N Maniatis; A Collins; C F Xu; L C McCarthy; D R Hewett; W Tapper; S Ennis; X Ke; N E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-12       Impact factor: 11.205

4.  Crossover interference in the mouse.

Authors:  Karl W Broman; Lucy B Rowe; Gary A Churchill; Ken Paigen
Journal:  Genetics       Date:  2002-03       Impact factor: 4.562

5.  Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex.

Authors:  A J Jeffreys; L Kauppi; R Neumann
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

6.  A high-resolution recombination map of the human genome.

Authors:  Augustine Kong; Daniel F Gudbjartsson; Jesus Sainz; Gudrun M Jonsdottir; Sigurjon A Gudjonsson; Bjorgvin Richardsson; Sigrun Sigurdardottir; John Barnard; Bjorn Hallbeck; Gisli Masson; Adam Shlien; Stefan T Palsson; Michael L Frigge; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Kari Stefansson
Journal:  Nat Genet       Date:  2002-06-10       Impact factor: 38.330

7.  The optimal measure of linkage disequilibrium reduces error in association mapping of affection status.

Authors:  N Maniatis; N E Morton; J Gibson; C-F Xu; L K Hosking; A Collins
Journal:  Hum Mol Genet       Date:  2004-11-17       Impact factor: 6.150

8.  Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps.

Authors:  Weihua Zhang; Andrew Collins; Jane Gibson; William J Tapper; Sarah Hunt; Panos Deloukas; David R Bentley; Newton E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-16       Impact factor: 11.205

9.  Human recombination hot spots hidden in regions of strong marker association.

Authors:  Alec J Jeffreys; Rita Neumann; Maria Panayi; Simon Myers; Peter Donnelly
Journal:  Nat Genet       Date:  2005-05-08       Impact factor: 38.330

10.  The X chromosome and the rate of deleterious mutations in humans.

Authors:  F Giannelli; P M Green
Journal:  Am J Hum Genet       Date:  2000-07-05       Impact factor: 11.025

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  30 in total

1.  Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease.

Authors:  Heather Elding; Winston Lau; Dallas M Swallow; Nikolas Maniatis
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

2.  The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes.

Authors:  Michael F Hammer; August E Woerner; Fernando L Mendez; Joseph C Watkins; Murray P Cox; Jeffrey D Wall
Journal:  Nat Genet       Date:  2010-08-29       Impact factor: 38.330

3.  Genome scanning by composite likelihood.

Authors:  Newton Morton; Nikolas Maniatis; Weihua Zhang; Sarah Ennis; Andrew Collins
Journal:  Am J Hum Genet       Date:  2006-12-05       Impact factor: 11.025

4.  A second-generation combined linkage physical map of the human genome.

Authors:  Tara C Matise; Fang Chen; Wenwei Chen; Francisco M De La Vega; Mark Hansen; Chunsheng He; Fiona C L Hyland; Giulia C Kennedy; Xiangyang Kong; Sarah S Murray; Janet S Ziegle; William C L Stewart; Steven Buyske
Journal:  Genome Res       Date:  2007-11-07       Impact factor: 9.043

5.  A comparative location database (CompLDB): map integration within and between species.

Authors:  Webber Liao; Andrew Collins; Matthew Hobbs; Mehar S Khatkar; Junhong Luo; Frank W Nicholas
Journal:  Mamm Genome       Date:  2007-06-23       Impact factor: 2.957

6.  A multimetric approach to analysis of genome-wide association by single markers and composite likelihood.

Authors:  Jane Gibson; William Tapper; David Cox; Weihua Zhang; Arne Pfeufer; Christian Gieger; H-Erich Wichmann; Stefan Kääb; Andrew R Collins; Thomas Meitinger; Newton Morton
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-11       Impact factor: 11.205

Review 7.  Allelic association: linkage disequilibrium structure and gene mapping.

Authors:  Andrew Collins
Journal:  Mol Biotechnol       Date:  2008-10-08       Impact factor: 2.695

8.  A first-generation metric linkage disequilibrium map of bovine chromosome 6.

Authors:  Mehar S Khatkar; Andrew Collins; Julie A L Cavanagh; Rachel J Hawken; Matthew Hobbs; Kyall R Zenger; Wes Barris; Alexander E McClintock; Peter C Thomson; Frank W Nicholas; Herman W Raadsma
Journal:  Genetics       Date:  2006-07-02       Impact factor: 4.562

9.  Using both cases and controls for testing hardy-weinberg proportions in a genetic association study.

Authors:  Jian Wang; Sanjay Shete
Journal:  Hum Hered       Date:  2010-03-05       Impact factor: 0.444

10.  Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.

Authors:  S Ennis; A Murray; G Brightwell; N E Morton; P A Jacobs
Journal:  Hum Mutat       Date:  2007-12       Impact factor: 4.878

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