Carrie Sougnez

Integrated genomic analyses of ovarian carcinoma

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Integrated genomic characterization of endometrial carcinoma

Mutational heterogeneity in cancer and the search for new cancer-associated genes

Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels

New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (...

Initial sequencing and analysis of the human genome

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collabor...

Melanoma genome sequencing reveals frequent PREX2 mutations

The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

The mutational profile of head and neck cancer is complex and may pose challenges to the development of targeted therapies.

The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity

Demographic history and rare allele sharing among human populations

High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental h...

The functional spectrum of low-frequency coding variation