Linkage disequilibrium in humans: models and data

JK Pritchard, M Przeworski - The American Journal of Human Genetics, 2001 - cell.com
In this review, we describe recent empirical and theoretical work on the extent of linkage
disequilibrium (LD) in the human genome, comparing the predictions of simple population …

Haplotype blocks and linkage disequilibrium in the human genome

JD Wall, JK Pritchard - Nature Reviews Genetics, 2003 - nature.com
There is great interest in the patterns and extent of linkage disequilibrium (LD) in humans
and other species. Characterizing LD is of central importance for gene-mapping studies and …

Identification of the cystic fibrosis gene: genetic analysis

B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …

The international HapMap project

RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu… - 2003 - deepblue.lib.umich.edu
The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in …

The structure of haplotype blocks in the human genome

SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy… - science, 2002 - science.org
Haplotype-based methods offer a powerful approach to disease gene mapping, based on
the association between causal mutations and the ancestral haplotypes on which they …

Mitochondrial DNA and human evolution

RL Cann, M Stoneking, AC Wilson - Nature, 1987 - nature.com
Mitochondrial DNAsfrom 147 people, drawn from five geographic populations have been
analysed by restriction mapping. All these mitochondrial DMAs stem from one woman who is …

[图书][B] The thalassaemia syndromes

DJ Weatherall, JB Clegg - 2008 - books.google.com
In the new edition of this successful and authoritative book, the thalassaemias are reviewed
in detail with respect to their clinical features, cellular pathology, molecular genetics …

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium

CS Carlson, MA Eberle, MJ Rieder, Q Yi… - The American Journal of …, 2004 - cell.com
Common genetic polymorphisms may explain a portion of the heritable risk for common
diseases. Within candidate genes, the number of common polymorphisms is finite, but direct …

Variances and covariances of squared linkage disequilibria in finite populations

WG Hill, BS Weir - Theoretical population biology, 1988 - Elsevier
Abstract Analysis of linkage disequilibrium D among restriction sites or bases in DNA
sequences, arising from mutations in finite populations, depends on a knowledge of the …

Gametic disequilibrium measures: proceed with caution

PW Hedrick - Genetics, 1987 - academic.oup.com
Five different measures of gametic disequilibrium in current use and a new one based on
RC Lewontin's D′, are examined and compared. All of them, except the measure based on …