Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
- G. Abecasis, S. Cherny, W. Cookson, L. Cardon
- BiologyNature Genetics
- 2002
The multipoint engine for rapid likelihood inference (Merlin) is a computer program that uses sparse inheritance trees for pedigree analysis; it performs rapid haplotyping, genotype error detection and affected pair linkage analyses and can handle more markers than other pedigree analysis packages.
Finding the missing heritability of complex diseases
- T. Manolio, F. Collins, P. Visscher
- BiologyNature
- 8 October 2009
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.…
A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity
- T. Frayling, N. Timpson, M. McCarthy
- MedicineScience
- 11 May 2007
A genome-wide search for type 2 diabetes–susceptibility genes identified a common variant in the FTO (fat mass and obesity associated) gene that predisposes to diabetes through an effect on body mass index (BMI).
A second generation human haplotype map of over 3.1 million SNPs
- K. Frazer, D. Ballinger, J. Stewart
- BiologyNature
- 18 October 2007
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.
A general test of association for quantitative traits in nuclear families.
- G. Abecasis, L. Cardon, W. Cookson
- BiologyAmerican Journal of Human Genetics
- 2000
A general approach that can accommodate nuclear families of any size, with or without parental information, is constructed, and it is shown that, when siblings are available, the total number of genotypes required in order to achieve comparable power is smaller if parents are not genotyped.
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
- P. Burton, D. Clayton, A. Compston
- BiologyNature
- 7 June 2007
This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest.
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
- J. Barrett, S. Hansoul, M. Daly
- BiologyNature Genetics
- 1 August 2008
The results strongly confirm 11 previously reported loci and provide genome-wide significant evidence for 21 additional loci, including the regions containing STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1, which offer promise for informed therapeutic development.
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
- M. McCarthy, G. Abecasis, J. Hirschhorn
- BiologyNature reviews genetics
- 1 May 2008
This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
Methodology for Genetic Studies of Twins and Families
Preface. List of Figures. List of Tables. 1. The Scope of Genetic Analyses. 2. Data Summary. 3. Biometrical Genetics. 4. Matrix Algebra. 5. Path Analysis and Structural Equations. 6. LISREL Models…
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes
- E. Zeggini, M. Weedon, A. Hattersley
- Medicine, BiologyScience
- 1 June 2007
These findings provide insight into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect and underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 1 diabetes.
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