Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450-2C19 (CYP2C19) Genotype and Clopidogrel Therapy

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Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk

(2011) Cinnamon S. Bloss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Type 1 Diabetes: Etiology, Immunology, and Therapeutic Strategies

(2011) Tom L. Van Belle et al.   PHYSIOLOGICAL REVIEWS

Factor V Leiden thrombophilia

(2010) Jody Lynn Kujovich   GENETICS IN MEDICINE

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

(2010) A. McKenna et al.   GENOME RESEARCH

Celiac disease: how complicated can it get?

(2010) Jennifer May-Ling Tjon et al.   IMMUNOGENETICS

Challenges in the clinical application of whole-genome sequencing

(2010) Kelly E Ormond et al.   LANCET

The personal genome—the future of personalised medicine?

(2010) Nilesh J Samani et al.   LANCET

A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses

(2010) Samuli Ripatti et al.   LANCET

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Prdm9 Controls Activation of Mammalian Recombination Hotspots

(2010) E. D. Parvanov et al.   SCIENCE

Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination

(2010) S. Myers et al.   SCIENCE

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

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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

Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data

(2009) Jacob F. Degner et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data

(2009)   NEW ENGLAND JOURNAL OF MEDICINE

Disclosure ofAPOEGenotype for Risk of Alzheimer's Disease

(2009) Robert C. Green et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research

(2008) Matthew R. Nelson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

(2008) A. D. Johnson et al.   BIOINFORMATICS

A mechanism for the HLA-A*01-associated risk for EBV+ Hodgkin lymphoma and infectious mononucleosis

(2008) R. M. Brennan et al.   BLOOD

High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans

(2008) G. Coop et al.   SCIENCE

Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate

(2008) A. Kong et al.   SCIENCE

The Recombinational Anatomy of a Mouse Chromosome

(2008) Kenneth Paigen et al.   PLoS Genetics