Low Frequency Variants, Collapsed Based on Biological Knowledge, Uncover Complexity of Population Stratification in 1000 Genomes Project Data

Identifying Recent Adaptations in Large-Scale Genomic Data

(2013) Sharon R. Grossman et al.   CELL

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

(2013) Qianying Liu et al.   GENETIC EPIDEMIOLOGY

Detecting Rare Variant Associations by Identity-by-Descent Mapping in Case-Control Studies

(2012) S. R. Browning et al.   GENETICS

The Timing of Pigmentation Lightening in Europeans

(2012) Sandra Beleza et al.   MOLECULAR BIOLOGY AND EVOLUTION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012)   NATURE

Human skin pigmentation, migration and disease susceptibility

(2012) N. G. Jablonski et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Limitations of the Human Reference Genome for Personalized Genomics

(2012) Jeffrey A. Rosenfeld et al.   PLoS One

Human Genetic Variation, Shared and Private

(2012) F. Casals et al.   SCIENCE

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

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

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource

(2011) Ellen M McDonagh et al.   Biomarkers in Medicine

A probabilistic disease-gene finder for personal genomes

(2011) M. Yandell et al.   GENOME RESEARCH

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

MINT, the molecular interaction database: 2012 update

(2011) Luana Licata et al.   NUCLEIC ACIDS RESEARCH

The UniProt-GO Annotation database in 2011

(2011) E. C. Dimmer et al.   NUCLEIC ACIDS RESEARCH

KEGG for integration and interpretation of large-scale molecular data sets

(2011) M. Kanehisa et al.   NUCLEIC ACIDS RESEARCH

The Pfam protein families database

(2011) M. Punta et al.   NUCLEIC ACIDS RESEARCH

Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results

(2011) Naomi R. Wray et al.   PLOS BIOLOGY

Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III

(2010) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Characterization of missing human genome sequences and copy-number polymorphic insertions

(2010) Jeffrey M Kidd et al.   NATURE METHODS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

New approaches to population stratification in genome-wide association studies

(2010) Alkes L. Price et al.   NATURE REVIEWS GENETICS

The BioGRID Interaction Database: 2011 update

(2010) C. Stark et al.   NUCLEIC ACIDS RESEARCH

Database resources of the National Center for Biotechnology Information

(2010) E. W. Sayers et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: update 2011

(2010) P. A. Fujita et al.   NUCLEIC ACIDS RESEARCH

Reactome: a database of reactions, pathways and biological processes

(2010) D. Croft et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Approach to Analyzing Rare Genetic Variants

(2010) Thomas J. Hoffmann et al.   PLoS One

NetPath: a public resource of curated signal transduction pathways

(2010) Kumaran Kandasamy et al.   GENOME BIOLOGY

Measuring the Rates of Spontaneous Mutation From Deep and Large-Scale Polymorphism Data

(2009) Philipp W. Messer   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

Building the sequence map of the human pan-genome

(2009) Ruiqiang Li et al.   NATURE BIOTECHNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data

(2009) Elisha D. O. Roberson et al.   PLoS One

Genetic Variation and Recent Positive Selection in Worldwide Human Populations: Evidence from Nearly 1 Million SNPs

(2009) David López Herráez et al.   PLoS One

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li 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

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

Natural selection has driven population differentiation in modern humans

(2008) Luis B Barreiro et al.   NATURE GENETICS