Whole-Genome Sequencing in Personalized Therapeutics

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

(2012) Rui Chen et al.   CELL

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

(2012) Evita van de Steeg et al.   JOURNAL OF CLINICAL INVESTIGATION

Association of the 5-aminoimidazole-4-carboxamide ribonucleotide transformylase gene with response to methotrexate in juvenile idiopathic arthritis

(2011) A. Hinks et al.   ANNALS OF THE RHEUMATIC DISEASES

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

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

Ranking insertion, deletion and nonsense mutations based on their effect on genetic information

(2011) Amin Zia et al.   BMC BIOINFORMATICS

Cancer epigenetics: linking basic biology to clinical medicine

(2011) Hsing-Chen Tsai et al.   CELL RESEARCH

Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention

(2011) Richard W Grant et al.   Clinical Trials

Long non-coding RNAs and enhancers

(2011) Ulf Andersson Ørom et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition

(2011) L. B. Ramsey et al.   GENOME RESEARCH

Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene

(2011) John S. Welch   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic Factors Underlying the Risk of Thalidomide-Related Neuropathy in Patients With Multiple Myeloma

(2011) David C. Johnson et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2011) Hilma Holm et al.   NATURE GENETICS

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

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

Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study

(2011) S. Roychowdhury et al.   Science Translational Medicine

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

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

(2011) Frederick E. Dewey et al.   PLoS Genetics

Genome-Wide Association Studies and Beyond

(2010) John S. Witte   Annual Review of Public Health

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

(2010) Anaïs Mottaz et al.   BIOINFORMATICS

ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS

(2010) Eric Pasmant et al.   FASEB JOURNAL

Small insertions and deletions (INDELs) in human genomes

(2010) J. M. Mullaney et al.   HUMAN MOLECULAR GENETICS

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Public data archives for genomic structural variation

(2010) Deanna M Church et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Stress and the epigenetic landscape: a link to the pathobiology of human diseases?

(2010) Sarah E. Johnstone et al.   NATURE REVIEWS GENETICS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

The European Nucleotide Archive

(2010) R. Leinonen et al.   NUCLEIC ACIDS RESEARCH

DrugBank 3.0: a comprehensive resource for 'Omics' research on drugs

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

An Environment-Wide Association Study (EWAS) on Type 2 Diabetes Mellitus

(2010) Chirag J. Patel et al.   PLoS One

Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease Association

(2010) Rong Chen et al.   PLoS One

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

(2010) J. C. Roach et al.   SCIENCE

Likelihood ratios for genome medicine

(2010) Alexander A Morgan et al.   Genome Medicine

Rare Variants Create Synthetic Genome-Wide Associations

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

Sulfotransferase gene copy number variation: pharmacogenetics and function

(2009) S.J. Hebbring et al.   CYTOGENETIC AND GENOME RESEARCH

dbSNP in the detail and copy number complexities

(2009) Ian N.M. Day   HUMAN MUTATION

Association of Cytochrome P450 2C19 Genotype With the Antiplatelet Effect and Clinical Efficacy of Clopidogrel Therapy

(2009) Alan R. Shuldiner   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin

(2009) Ann K Daly et al.   NATURE GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy

(2009) Vijayaprakash Suppiah et al.   NATURE GENETICS

Genome-wide association of IL28B with response to pegylated interferon-α and ribavirin therapy for chronic hepatitis C

(2009) Yasuhito Tanaka et al.   NATURE GENETICS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

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

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Pharmacogenomics of anticoagulants: steps toward personal dosage

(2009) Ann K Daly   Genome Medicine

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose

(2008) G. M. Cooper et al.   BLOOD

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE

Pharmacogenomic Biomarker Information in Drug Labels Approved by the United States Food and Drug Administration: Prevalence of Related Drug Use

(2008) Felix W Frueh et al.   PHARMACOTHERAPY

Knowing me, knowing you 

(2008) Jeanne Lenzer et al.   BMJ-British Medical Journal