[PDF][PDF] Evidence for extensive transmission distortion in the human genome

S Zöllner, X Wen, NA Hanchard, MA Herbert… - The American Journal of …, 2004 - cell.com
It is a basic principle of genetics that each chromosome is transmitted from parent to
offspring with a probability that is given by Mendel's laws. However, several known …

Understanding human DNA sequence variation

KK Kidd, AJ Pakstis, WC Speed, JR Kidd - Journal of Heredity, 2004 - academic.oup.com
Over the past century researchers have identified normal genetic variation and studied that
variation in diverse human populations to determine the amounts and distributions of that …

Theory of the effects of population structure and sampling on patterns of linkage disequilibrium applied to genomic data from humans

J Wakeley, S Lessard - Genetics, 2003 - academic.oup.com
We develop predictions for the correlation of heterozygosity and for linkage disequilibrium
between two loci using a simple model of population structure that includes migration …

Allelic variation in gene expression is common in the human genome

HS Lo, Z Wang, Y Hu, HH Yang, S Gere… - Genome …, 2003 - genome.cshlp.org
Variations in gene sequence and expression underlie much of human variability. Despite
the known biological roles of differential allelic gene expression resulting from X …

Opinion: how can one study individual variation for 3 billion nucleotides of the human genome?

LL Cavalli-Sforza - American journal of human genetics, 1990 - ncbi.nlm.nih.gov
Nucleotides of the Human Genome? Page 1 Am. J. Hum. Genet. 46:649-651, 1990 Opinion:
How Can One Study Individual Variation for 3 Billion Nucleotides of the Human Genome? L …

[PDF][PDF] Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion

K Ardlie, SN Liu-Cordero, MA Eberle, M Daly… - The American Journal of …, 2001 - cell.com
Understanding the pattern of linkage disequilibrium (LD) in the human genome is important
both for successful implementation of disease-gene mapping approaches and for inferences …

[PDF][PDF] Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

DP Locke, AJ Sharp, SA McCarroll, SD McGrath… - The American journal of …, 2006 - cell.com
Studies of copy-number variation and linkage disequilibrium (LD) have typically excluded
complex regions of the genome that are rich in duplications and prone to rearrangement. In …

[HTML][HTML] Effects of cis and trans Genetic Ancestry on Gene Expression in African Americans

AL Price, N Patterson, DC Hancks, S Myers… - PLoS …, 2008 - journals.plos.org
Variation in gene expression is a fundamental aspect of human phenotypic variation.
Several recent studies have analyzed gene expression levels in populations of different …

Human genome sequence variation and the influence of gene history, mutation and recombination

DE Reich, SF Schaffner, MJ Daly, G McVean… - Nature …, 2002 - nature.com
Variation in the human genome sequence is key to understanding susceptibility to disease
in modern populations and the history of ancestral populations. Unlocking this information …

[PDF][PDF] PLINK: a tool set for whole-genome association and population-based linkage analyses

S Purcell, B Neale, K Todd-Brown, L Thomas… - The American journal of …, 2007 - cell.com
Whole-genome association studies (WGAS) bring new computational, as well as analytic,
challenges to researchers. Many existing genetic-analysis tools are not designed to handle …