Using Genome Query Language to uncover genetic variation | Zendy

Christos Kozanitis | Zendy; Andrew Heiberg | Zendy; Varghese George | Zendy; Vineet Bafna | Zendy

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Using Genome Query Language to uncover genetic variation

Author(s) -

Christos Kozanitis,

Andrew Heiberg,

Varghese George,

Vineet Bafna

Publication year - 2013

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btt250

Subject(s) - computer science , inference , information retrieval , data mining , computational biology , biology , artificial intelligence

With high-throughput DNA sequencing costs dropping <$1000 for human genomes, data storage, retrieval and analysis are the major bottlenecks in biological studies. To address the large-data challenges, we advocate a clean separation between the evidence collection and the inference in variant calling. We define and implement a Genome Query Language (GQL) that allows for the rapid collection of evidence needed for calling variants.

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