chopBAI: BAM index reduction solves I/O bottlenecks in the joint analysis of large sequencing cohorts

Bioinformatics. 2016 Jul 15;32(14):2202-4. doi: 10.1093/bioinformatics/btw149. Epub 2016 Mar 18.

Abstract

Advances in sequencing capacity have led to the generation of unprecedented amounts of genomic data. The processing of this data frequently leads to I/O bottlenecks, e. g. when analyzing a small genomic region across a large number of samples. The largest I/O burden is, however, often not imposed by the amount of data needed for the analysis but rather by index files that help retrieving this data. We have developed chopBAI, a program that can chop a BAM index (BAI) file into small pieces. The program outputs a list of BAI files each indexing a specified genomic interval. The output files are much smaller in size but maintain compatibility with existing software tools. We show how preprocessing BAI files with chopBAI can lead to a reduction of I/O by more than 95% during the analysis of 10 kb genomic regions, eventually enabling the joint analysis of more than 10 000 individuals.

Availability and implementation: The software is implemented in C ++, GPL licensed and available at http://github.com/DecodeGenetics/chopBAIContact:[email protected].

MeSH terms

  • Computational Biology / methods*
  • Genomics / methods*
  • Humans
  • Software*