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A second generation human haplotype map of over 3.1 million SNPs
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and… Expand
The Genomic Landscapes of Human Breast and Colorectal Cancers
Human cancer is caused by the accumulation of mutations in oncogenes and tumor suppressor genes. To catalog the genetic changes that occur during tumorigenesis, we isolated DNA from 11 breast and 11… Expand
Genome-wide association study identifies novel breast cancer susceptibility loci
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast… Expand
Whole-Genome Patterns of Common DNA Variation in Three Human Populations
Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide… Expand
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Toward $1000 Genomes The ability to generate human genome sequence data that is complete, accurate, and inexpensive is a necessary prerequisite to perform genome-wide disease association studies.… Expand
Genome-wide detection and characterization of positive selection in human populations
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms… Expand
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
- G. Hom, R. Graham, +24 authors T. Behrens
- The New England journal of medicine
- 28 February 2008
BACKGROUND Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease in which the risk of disease is influenced by complex genetic and environmental contributions. Alleles of HLA-DRB1,… Expand
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
In a genome-wide association study to identify loci associated with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 controls (phase 1). In… Expand
Novel genes identified in a high-density genome wide association study for nicotine dependence.
Tobacco use is a leading contributor to disability and death worldwide, and genetic factors contribute in part to the development of nicotine dependence. To identify novel genes for which natural… Expand
High-resolution whole-genome association study of Parkinson disease.
- D. Maraganore, M. de Andrade, +7 authors D. Ballinger
- Biology, Medicine
- American journal of human genetics
- 1 November 2005
We performed a two-tiered, whole-genome association study of Parkinson disease (PD). For tier 1, we individually genotyped 198,345 uniformly spaced and informative single-nucleotide polymorphisms… Expand