Optimal sequencing strategies for identifying disease-associated singletons

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

(2013) Johanna M Seddon et al.   NATURE GENETICS

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

(2013) Hannes Helgason et al.   NATURE GENETICS

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

(2013) Xiaowei Zhan et al.   NATURE GENETICS

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol

(2013) Alanna C Morrison et al.   NATURE GENETICS

Heart Disease and Stroke Statistics—2013 Update

(2012) Alan S. Go et al.   CIRCULATION

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

(2012) Ulrike Peters et al.   GASTROENTEROLOGY

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Low-coverage sequencing: Implications for design of complex trait association studies

(2011) Y. Li et al.   GENOME RESEARCH

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Epidemiology of Type 1 Diabetes

(2010) David M. Maahs et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples

(2010) S. Q. Le et al.   GENOME RESEARCH

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE