Francis S. Collins

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCO...

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association strategy, we genot...

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-as...

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

A reference panel of 64,976 haplotypes for genotype imputation

Finding the missing heritability of complex diseases

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Variations on a Theme: Cataloging Human DNA Sequence Variation

New methods for the discovery and scoring of single-nucleotide polymorphisms (SNPs) offer the potential for considerably improved methods for genetic analysis of complex biologi...

No Longer Just Looking under the Lamppost**Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 28, 2005.

The Huntington's disease candidate region exhibits many different haplotypes