Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for variation of >…

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 genotyped …

Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the role …

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of >12 million variants, …

Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …

Parkinson's disease is a common disorder that leads to motor and cognitive disability. We
performed a genome-wide association study of 2,000 individuals with Parkinson's disease (…

Case-parent trios were used in a genome-wide association study of cleft lip with and without
cleft palate. SNPs near two genes not previously associated with cleft lip with and without …

We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …

We executed a genome-wide association scan for age-related macular degeneration (AMD)
in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH (P …

Three genetic loci for lung cancer risk have been identified by genome-wide association
studies (GWAS), but inherited susceptibility to specific histologic types of lung cancer is not well …