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

Seven new loci associated with age-related macular degeneration

(2013) Lars G Fritsche et al.   NATURE GENETICS

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

Genetic Studies of Age-related Macular Degeneration

(2012) Rinki Ratna Priya et al.   OPHTHALMOLOGY

The Age-related Eye Disease Study 2 (AREDS2)

(2012) Emily Y. Chew et al.   OPHTHALMOLOGY

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

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

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population

(2011) Satoshi Arakawa et al.   NATURE GENETICS

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

(2011) M. Heurich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

(2010) W. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration

(2009) Anand Swaroop et al.   Annual Review of Genomics and Human Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Binding of Factor H to a Complex of Physiological Polyanions and C3b on Cells Is Impaired in Atypical Hemolytic Uremic Syndrome

(2009) V. P. Ferreira et al.   JOURNAL OF IMMUNOLOGY

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

(2009) S. Nejentsev et al.   SCIENCE

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation near complement factor I is associated with risk of advanced AMD

(2008) Jesen A Fagerness et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

(2008) Lars G Fritsche et al.   NATURE GENETICS

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE