Bioinformatics · 2018 · 28 citations · 8 references
Life SciencesBioinformaticsGenomic Data AnalysisGenomic InformaticsGenomicsDna SequencingGenome SequencingGenomic Data PrivacyGenomic DatabasesNext-generation SequencingDatabase InteroperabilityGenomic Data Access ControlGenomic Data SecurityGenomic Data SharingHigh-throughput Sequencing AnalysisLarge-scale Data ProcessingSecure Genomic Data StorageVariation Visualization
Summary: Standardized interfaces for efficiently accessing high-throughput sequencing data are a fundamental requirement for large-scale genomic data sharing. We have developed htsget, a protocol for secure, efficient and reliable access to sequencing read and variation data. We demonstrate four independent client and server implementations, and the results of a comprehensive interoperability demonstration. Availability and implementation: http://samtools.github.io/hts-specs/htsget.html. Supplementary information: Supplementary data are available at Bioinformatics online.
8
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 30.4K citations · Full text
The variant call format and VCFtools
Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
Umadevi Paila, Brad Chapman, Rory Kirchner et al. · PLoS Computational Biology · 2013 · 475 citations · Full text