Deriving genomic diagnoses without revealing patient genomes

Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

(2017) Ilja M Nolte et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data

(2017) Yi-Fei Huang et al.   NATURE GENETICS

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Facilitating a culture of responsible and effective sharing of cancer genome data

(2016) Lillian L Siu et al.   NATURE MEDICINE

Baby genome screening needs more time to gestate

(2016) J. Kaiser   SCIENCE

Enabling Privacy-Preserving GWASs in Heterogeneous Human Populations

(2016) Sean Simmons et al.   Cell Systems

Privacy Risks from Genomic Data-Sharing Beacons

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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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

DIDA: A curated and annotated digenic diseases database

(2015) Andrea M. Gazzo et al.   NUCLEIC ACIDS RESEARCH

Routes for breaching and protecting genetic privacy

(2014) Yaniv Erlich et al.   NATURE REVIEWS GENETICS

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

ACMG clinical laboratory standards for next-generation sequencing

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

HCN3 Contributes to the Ventricular Action Potential Waveform in the Murine Heart

(2011) Stefanie Fenske et al.   CIRCULATION RESEARCH

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

(2011) Michael A Simpson et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

(2008) K. L. McBride et al.   HUMAN MOLECULAR GENETICS

A Proof of Security of Yao’s Protocol for Two-Party Computation

(2008) Yehuda Lindell et al.   JOURNAL OF CRYPTOLOGY