In search of low-frequency and rare variants affecting complex traits

This Month in The Journal

(2013) Sarah Ratzel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MASS: meta-analysis of score statistics for sequencing studies

(2013) Z.-Z. Tang et al.   BIOINFORMATICS

Marbled Inflation From Population Structure in Gene-Based Association Studies With Rare Variants

(2013) Qianying Liu et al.   GENETIC EPIDEMIOLOGY

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

(2013) Alanna C Morrison et al.   NATURE GENETICS

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

(2013) Li Liu et al.   PLoS Genetics

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ARIEL and AMELIA: Testing for an Accumulation of Rare Variants Using Next-Generation Sequencing Data

(2012) Jennifer L. Asimit et al.   HUMAN HEREDITY

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

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

(2012)   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

(2012) Julius Gudmundsson et al.   NATURE GENETICS

Rare and Low Frequency Variant Stratification in the UK Population: Description and Impact on Association Tests

(2012) Marie-Claude Babron et al.   PLoS One

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

A Variant in MCF2L Is Associated with Osteoarthritis

(2011) Aaron G. Day-Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

(2011) Y. Li et al.   GENOME RESEARCH

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

(2011) Simon N Stacey et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Correlation between endothelial function and carotid atherosclerosis in rheumatoid arthritis patients with long-standing disease

(2011) Carlos González-Juanatey et al.   ARTHRITIS RESEARCH & THERAPY

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing

(2010) Dajiang J. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

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

Rare Variant Association Analysis Methods for Complex Traits

(2010) Jennifer Asimit et al.   Annual Review of Genetics

Association screening of common and rare genetic variants by penalized regression

(2010) H. Zhou et al.   BIOINFORMATICS

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

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

A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants

(2010) Fang Han et al.   HUMAN HEREDITY

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

An evaluation of statistical approaches to rare variant analysis in genetic association studies

(2009) Andrew P. Morris et al.   GENETIC EPIDEMIOLOGY

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

(2009) S. Nejentsev et al.   SCIENCE

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

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

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

The emerging landscape of breast cancer susceptibility

(2007) Michael R Stratton et al.   NATURE GENETICS