• Publications
  • Influence
PLINK: a tool set for whole-genome association and population-based linkage analyses.
TLDR
This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies. Expand
A second generation human haplotype map of over 3.1 million SNPs
TLDR
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated. Expand
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
TLDR
A website for performing power calculations for the design of linkage and association genetic mapping studies of complex traits and the package is made available atstatgen.iop.ac.uk/gpc. Expand
Biological Insights From 108 Schizophrenia-Associated Genetic Loci
TLDR
Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Expand
Monte Carlo tests for associations between disease and alleles at highly polymorphic loci
TLDR
A Monte Carlo method is implemented for four ‘chi‐squared’ test statistics, three of which involved combination of alleles, and evaluated their performance on a real data set. Expand
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
TLDR
Light is shed on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility and within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. Expand
The heritability of bipolar affective disorder and the genetic relationship to unipolar depression.
TLDR
There are substantial genetic and nonshared environmental correlations between mania and depression, but most of the genetic variance in liability to mania is specific to the manic syndrome. Expand
Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD).
TLDR
There is a statistically significant association between ADHD and dopamine system genes, especially DRD4 and DRD5, and these findings strongly implicate the involvement of brain dopamine systems in the pathogenesis of ADHD. Expand
An extended transmission/disequilibrium test (TDT) for multi‐allele marker loci
TLDR
The approximate power of the test appears that the test will often have good power when linkage disequilibrium is strong and if the disease is recessive, and the extended TDT to multi‐allele marker loci is evaluated. Expand
Genetic and physiological data implicating the new human gene G72 and the gene for d-amino acid oxidase in schizophrenia
TLDR
A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia, pointing to the involvement of this N-methyl-d-aspartate receptor regulation pathway in schizophrenia. Expand
...
1
2
3
4
5
...