Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)

(2015) Christopher Douville et al.   HUMAN MUTATION

Ten Simple Rules for a Community Computational Challenge

(2015) Iddo Friedberg et al.   PLoS Computational Biology

The SUPERFAMILY 1.75 database in 2014: a doubling of data

(2014) Matt E. Oates et al.   NUCLEIC ACIDS RESEARCH

Harvard Personal Genome Project: lessons from participatory public research

(2014) Madeleine P Ball et al.   Genome Medicine

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing

(2014) Yun-Ching Chen et al.   PLoS Computational Biology

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA

(2012) Susan Walsh et al.   Forensic Science International-Genetics

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

dcGO: database of domain-centric ontologies on functions, phenotypes, diseases and more

(2012) Hai Fang et al.   NUCLEIC ACIDS RESEARCH

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

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

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Red cell genotyping and the future of pretransfusion testing

(2009) D. J. Anstee   BLOOD

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin

(2008) BF Gage et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS