An informatics approach to analyzing the incidentalome

Exploring concordance and discordance for return of incidental findings from clinical sequencing

(2012) Robert C. Green et al.   GENETICS IN MEDICINE

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

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

Whole exome and whole genome sequencing

(2011) David Bick et al.   CURRENT OPINION IN PEDIATRICS

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility

(2011) C. A. Cassa et al.   GENOME RESEARCH

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

LRRK2 and Parkinson Disease

(2010) Justus C. Dächsel et al.   ARCHIVES OF NEUROLOGY

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

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

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

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

An agenda for personalized medicine

(2009) Pauline C. Ng et al.   NATURE

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

(2009) R. Drmanac et al.   SCIENCE

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

An Unwelcome Side Effect of Direct-to-Consumer Personal Genome Testing

(2008) Amy L. McGuire et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION