AnnTools: a comprehensive and versatile annotation toolkit for genomic variants

Summary: AnnTools is a versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known single-nucleotide substitutions (SNP/SNV), short insertions/deletions (INDEL) and structural variants/copy number variation (SV/CNV). The va...

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Autors principals: Makarov, Vladimir, O'Grady, Tina, Cai, Guiqing, Lihm, Jayon, Buxbaum, Joseph D., Yoon, Seungtai
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
Matèries:
Applications Note
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3289923/
https://ncbi.nlm.nih.gov/pubmed/22257670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bts032
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