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Research at Mass General
For the past decade, our group has aimed to make possible the discovery of novel processes causal in common human diseases through studies of inherited genomic variation. The approach has been to characterize and catalogue patterns of human genetic variation, to develop methods for genome-wide studies of sequence variants (single nucleotide and copy number variants both common and rare), and to apply these methods to dissect the genetic contribution of type 2 diabetes and other diseases.
Specifically, this lab contributed to understanding patterns of genetic variation in the human genome, characterizing SNPs and copy number variants, linkage disequilibrium properties, and the underlying influence of recombination rate and population history. They led in the creation of the public genome-wide SNP map, and the International Haplotype Map Project. They contributed to development of microarray methods for genome-wide measurement of genetic variation, and to statistical methods for design and analysis of genetic association studies.
They performed association studies that led to the discovery of over three dozen novel genomic loci harboring causal variants influencing type 2 diabetes, serum lipids, prostate cancer, systemic lupus erythematosis and rheumatoid arthritis.
We have studied these and other variants previously identified to begin exploring their contributions to physiology and clinical medicine.
In 2007, Science Magazine named studies of genomic variation as Breakthrough of the Year, and highlighted our work. In 2005, Science included the International HapMap Project in the citation naming studies of human evolution as breakthrough of that year.
This research is collaborative and multidisciplinary, requiring sustained partnerships of physicians and clinical researchers, medical geneticists, experts in technology and process management, statisticians and population geneticists.
View recent publications from the Altshuler Lab. Some full text publications may require a subscription.
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