Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development

Cutting the Gordian Helix — Regulating Genomic Testing in the Era of Precision Medicine

(2015) Eric S. Lander   NEW ENGLAND JOURNAL OF MEDICINE

The FDA and Genomic Tests — Getting Regulation Right

(2015) Barbara J. Evans et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Translation of genomics-guided RNA-based personalised cancer vaccines: towards the bedside

(2014) V Boisguérin et al.   BRITISH JOURNAL OF CANCER

European Medicines Agency initiatives and perspectives on pharmacogenomics

(2014) Falk Ehmann et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Cancer Drug Development and the Evolving Regulatory Framework for Companion Diagnostics in the European Union

(2014) F. Pignatti et al.   CLINICAL CANCER RESEARCH

Next-generation sequencing in precision oncology: challenges and opportunities

(2014) Kristina M Kruglyak et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Application of Whole-Genome Sequencing

(2014) William Gregory Feero   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Cloud-based bioinformatics workflow platform for large-scale next-generation sequencing analyses

(2014) Bo Liu et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

(2014) Eliezer M Van Allen et al.   NATURE MEDICINE

Expanding the computational toolbox for mining cancer genomes

(2014) Li Ding et al.   NATURE REVIEWS GENETICS

Sequencing depth and coverage: key considerations in genomic analyses

(2014) David Sims et al.   NATURE REVIEWS GENETICS

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

(2014) Michael R. Wilson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

(2014) Dale L. Bodian et al.   PLoS One

Obstacles and opportunities for the future of genomic medicine

(2014) Benjamin D. Solomon   Molecular Genetics & Genomic Medicine

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

(2014) Dale L. Bodian et al.   Molecular Genetics & Genomic Medicine

Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

(2013) C. C. Chrystoja et al.   CLINICAL CHEMISTRY

Therapeutic Drug Monitoring as a Component of Personalized Medicine: Applications in Pediatric Drug Development

(2013) J D Momper et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

“N of 1” case reports in the era of whole-genome sequencing

(2013) A. Rose Brannon et al.   JOURNAL OF CLINICAL INVESTIGATION

Analysis of the Security and Privacy Requirements of Cloud-Based Electronic Health Records Systems

(2013) Joel JPC Rodrigues et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

100k Genome Project: sequencing and much more

(2013) Susanne B Haga   Personalized Medicine

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

(2013) Jason O'Rawe et al.   Genome Medicine

Making Personalized Cancer Medicine a Reality: Challenges and Opportunities in the Development of Biomarkers and Companion Diagnostics

(2012) D. R. Parkinson et al.   CLINICAL CANCER RESEARCH

Evidence-Based Laboratory Medicine in Oncology Drug Development: From Biomarkers to Diagnostics

(2012) V. Modur et al.   CLINICAL CHEMISTRY

Next-generation sequencing: ready for the clinics?

(2012) AN Desai et al.   CLINICAL GENETICS

Operational Implementation of Prospective Genotyping for Personalized Medicine: The Design of the Vanderbilt PREDICT Project

(2012) J M Pulley et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The 1200 Patients Project: Creating a New Medical Model System for Clinical Implementation of Pharmacogenomics

(2012) P H O'Donnell et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Inhibitors of the anaplastic lymphoma kinase

(2012) Luca Mologni   EXPERT OPINION ON INVESTIGATIONAL DRUGS

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

(2012)   NATURE

The determination and interpretation of the therapeutic index in drug development

(2012) Patrick Y. Muller et al.   NATURE REVIEWS DRUG DISCOVERY

Diagnosing the decline in pharmaceutical R&D efficiency

(2012) Jack W. Scannell et al.   NATURE REVIEWS DRUG DISCOVERY

A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized and participatory

(2012) Leroy Hood et al.   New Biotechnology

Economic challenges and possible policy actions to advance stratified medicine

(2012) Mark R Trusheim et al.   Personalized Medicine

Whole genomes, small children, big questions

(2012) Jeantine E Lunshof   Personalized Medicine

Limitations of the Human Reference Genome for Personalized Genomics

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

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

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

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

Performance comparison of whole-genome sequencing platforms

(2011) Hugo Y K Lam et al.   NATURE BIOTECHNOLOGY

Vemurafenib

(2011) Keith. T Flaherty et al.   NATURE REVIEWS DRUG DISCOVERY

Quantifying factors for the success of stratified medicine

(2011) Mark R. Trusheim et al.   NATURE REVIEWS DRUG DISCOVERY

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Genome Sequencing for Optimized Patient Management

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

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Assembly algorithms for next-generation sequencing data

(2010) Jason R. Miller et al.   GENOMICS

Expression profiling of microRNAs by deep sequencing

(2009) C. J. Creighton et al.   BRIEFINGS IN BIOINFORMATICS

Personalized Medicine and Inhibition ofEGFRSignaling in Lung Cancer

(2009) Adi F. Gazdar   NEW ENGLAND JOURNAL OF MEDICINE

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations

(2008) Susan M. Wolf et al.   JOURNAL OF LAW MEDICINE & ETHICS

Do molecularly targeted agents in oncology have reduced attrition rates?

(2008) Ian Walker et al.   NATURE REVIEWS DRUG DISCOVERY