Bambino: a variant detector and alignment viewer for next-generation sequencing data in the SAM/BAM format
Author(s) -
Michael N. Edmonson,
Jinghui Zhang,
Chunhua Yan,
Richard P. Finney,
Daoud Meerzaman,
Kenneth H. Buetow
Publication year - 2011
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/btr032
Subject(s) - computer science , annotation , documentation , java , context (archaeology) , reference genome , pooling , ensembl , genome browser , genome , information retrieval , artificial intelligence , genomics , genetics , biology , programming language , gene , paleontology
Bambino is a variant detector and graphical alignment viewer for next-generation sequencing data in the SAM/BAM format, which is capable of pooling data from multiple source files. The variant detector takes advantage of SAM-specific annotations, and produces detailed output suitable for genotyping and identification of somatic mutations. The assembly viewer can display reads in the context of either a user-provided or automatically generated reference sequence, retrieve genome annotation features from a UCSC genome annotation database, display histograms of non-reference allele frequencies, and predict protein-coding changes caused by SNPs.
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