GAMES identifies and annotates mutations in next-generation sequencing projects
Author(s) -
Maria Elena Sana,
Maria Iascone,
Daniela Marchetti,
Jeff Palatini,
Marco Galasso,
Stefano Volinia
Publication year - 2010
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/btq603
Subject(s) - dna sequencing , computational biology , mutation , computer science , genetics , biology , data science , gene
Next-generation sequencing (NGS) methods have the potential for changing the landscape of biomedical science, but at the same time pose several problems in analysis and interpretation. Currently, there are many commercial and public software packages that analyze NGS data. However, the limitations of these applications include output which is insufficiently annotated and of difficult functional comprehension to end users.
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