Evidence for gradients of human genetic diversity within and among continents

D Serre, S Pääbo - Genome research, 2004 - genome.cshlp.org
Genetic variation in humans is sometimes described as being discontinuous among
continents or among groups of individuals, and by some this has been interpreted as genetic …

Divergence in the spatial pattern of gene expression between human duplicate genes

KD Makova, WH Li - Genome research, 2003 - genome.cshlp.org
Microarray gene expression data provide a wealth of information for elucidating the mode
and tempo of molecular evolution. In the present study, we analyze the spatial expression …

[PDF][PDF] Population bottlenecks and patterns of human polymorphism.

J Hey, E Harris - Molecular Biology and Evolution, 1999 - qcc.cuny.edu
Fay and Wu (1999) bring up a valuable point, that the time over which the pattern of
polymorphism responds to a change in population size will be greater for larger populations …

Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.

M Boehnke - American Journal of Human Genetics, 1994 - ncbi.nlm.nih.gov
Positional cloning studies to identify disease genes are being carried out for many human
genetic diseases. Such studies often include a genome-scan linkage analysis to identify the …

Confounding by linkage disequilibrium

B Aissani - Journal of human genetics, 2014 - nature.com
Linkage disequilibrium (LD) and confounding are two widely discussed concepts in
Genetics and in Epidemiology, yet their relationship has received only intuitive or no …

[PDF][PDF] Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes

G Genovese, RE Handsaker, H Li, EE Kenny… - The American Journal of …, 2013 - cell.com
A principal obstacle to completing maps and analyses of the human genome involves the
genome's" inaccessible" regions: sequences (often euchromatic and containing genes) that …

Human haplotype block sizes are negatively correlated with recombination rates

TA Greenwood, BK Rana, NJ Schork - Genome research, 2004 - genome.cshlp.org
The International Haplotype Map (“HapMap”) Project is motivated, in part, by the belief that
the organization of the human genome, the mechanics of recombination, and the population …

Mapping and sequencing of structural variation from eight human genomes

JM Kidd, GM Cooper, WF Donahue, HS Hayden… - Nature, 2008 - nature.com
Genetic variation among individual humans occurs on many different scales, ranging from
gross alterations in the human karyotype to single nucleotide changes. Here we explore …

Linkage disequilibrium—understanding the evolutionary past and mapping the medical future

M Slatkin - Nature Reviews Genetics, 2008 - nature.com
Linkage disequilibrium—the nonrandom association of alleles at different loci—is a sensitive
indicator of the population genetic forces that structure a genome. Because of the explosive …

[PDF][PDF] Genomewide transmission/disequilibrium testing—consideration of the genotypic relative risks at disease loci

NJ Camp - The American Journal of Human Genetics, 1997 - cell.com
Genomewide association studies are set to become the tool of the future for detection of
small-effect genes in complex diseases. It will therefore be necessary to calculate sufficient …