Scalable and cost-effective NGS genotyping in the cloud

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

(2015) Benjamin J Kelly et al.   GENOME BIOLOGY

COSMOS: Python library for massively parallel workflows

(2014) Erik Gafni et al.   BIOINFORMATICS

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

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

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud

(2014) Konrad J. Karczewski et al.   PLoS One

Rainbow: a tool for large-scale whole-genome sequencing data analysis using cloud computing

(2013) Shanrong Zhao et al.   BMC GENOMICS

The DNA data deluge

(2013) M. C. Schatz et al.   IEEE SPECTRUM

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

First FDA Authorization for Next-Generation Sequencer

(2013) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tavaxy: Integrating Taverna and Galaxy workflows with cloud computing support

(2012) Mohamed Abouelhoda et al.   BMC BIOINFORMATICS

Next-generation sequencing: ready for the clinics?

(2012) AN Desai et al.   CLINICAL GENETICS

Next-generation sequencing data interpretation: enhancing reproducibility and accessibility

(2012) Anton Nekrutenko et al.   NATURE REVIEWS GENETICS

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

(2012) Maria Fischer et al.   PLoS One

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Biomedical Cloud Computing With Amazon Web Services

(2011) Vincent A. Fusaro et al.   PLoS Computational Biology

The real cost of sequencing: higher than you think!

(2011) Andrea Sboner et al.   GENOME BIOLOGY

High-throughput DNA sequencing - concepts and limitations

(2010) Martin Kircher et al.   BIOESSAYS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

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

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

MapReduce

(2008) Jeffrey Dean et al.   COMMUNICATIONS OF THE ACM