Evolutionary evidence of the effect of rare variants on disease etiology

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

(2010) Eveliina Jakkula et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Power analysis for case–control association studies of samples with known family histories

(2010) Bo Peng et al.   HUMAN GENETICS

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

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

Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies

(2010) A. Eyre-Walker   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases

(2009) M. J. Khoury et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

A synonymous mutation inTCOF1causes Treacher Collins syndrome due to mis-splicing of a constitutive exon

(2009) D. Macaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

DDEC: Dragon database of genes implicated in esophageal cancer

(2009) Magbubah Essack et al.   BMC CANCER

SNP@Evolution: a hierarchical database of positive selection on the human genome

(2009) Feng Cheng et al.   BMC EVOLUTIONARY BIOLOGY

Evidence of uneven selective pressure on different subsets of the conserved human genome; implications for the significance of intronic and intergenic DNA

(2009) Scott Davidson et al.   BMC GENOMICS

An Open Access Database of Genome-wide Association Results

(2009) Andrew D Johnson et al.   BMC Medical Genetics

Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis

(2009) Christopher Vidal et al.   BONE

Epigenetic Inheritance and the Missing Heritability Problem

(2009) M. Slatkin   GENETICS

Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Missing Heritability and GWAS Utility

(2009) Clifton Bogardus   Obesity

How Many Genetic Variants Remain to Be Discovered?

(2009) Yudi Pawitan et al.   PLoS One

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

(2009) S. Nejentsev et al.   SCIENCE

Evolutionary Processes Acting on Candidate cis-Regulatory Regions in Humans Inferred from Patterns of Polymorphism and Divergence

(2009) Dara G. Torgerson et al.   PLoS Genetics

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Positive Selection in the Human Genome: From Genome Scans to Biological Significance

(2008) Joanna L. Kelley et al.   Annual Review of Genomics and Human Genetics

Relative effects of mutability and selection on single nucleotide polymorphisms in transcribed regions of the human genome

(2008) Ivan P Gorlov et al.   BMC GENOMICS

Assessing the Combined Impact of 18 Common Genetic Variants of Modest Effect Sizes on Type 2 Diabetes Risk

(2008) H. Lango et al.   DIABETES

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

(2008) Cristen J Willer et al.   NATURE GENETICS

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Genome-Wide Analysis of Natural Selection on Human Cis-Elements

(2008) Praveen Sethupathy et al.   PLoS One

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE

What Can Genome-Wide Association Studies Tell Us about the Genetics of Common Disease?

(2008) Mark M Iles   PLoS Genetics

Natural selection of protein structural and functional properties: a SNP perspective

(2008) Jinfeng Liu et al.   GENOME BIOLOGY