Federated discovery and sharing of genomic data using Beacons

Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks

(2017) Jean Louis Raisaro et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Registered access: a ‘Triple-A’ approach

(2016) Stephanie O M Dyke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A federated ecosystem for sharing genomic, clinical data

(2016)   SCIENCE

The 100 000 Genomes Project

(2016) Mark Peplow   BMJ-British Medical Journal

Consent Codes: Upholding Standard Data Use Conditions

(2016) Stephanie O. M. Dyke et al.   PLoS Genetics

The 100 000 Genomes Project

(2016) Mark Peplow   BMJ-British Medical Journal

Sharing health-related data: a privacy test?

(2016) Stephanie OM Dyke et al.   npj Genomic Medicine

Privacy Risks from Genomic Data-Sharing Beacons

(2015) Suyash S. Shringarpure et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

(2015) Orion J. Buske et al.   HUMAN MUTATION

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

(2015) Orion J. Buske et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

The Precision Medicine Initiative

(2015) Euan A. Ashley   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Routes for breaching and protecting genetic privacy

(2014) Yaniv Erlich et al.   NATURE REVIEWS GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Read Archive

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

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays

(2008) Nils Homer et al.   PLoS Genetics