Deciphering of genome sequences is important for the mapping of genetic diseases and prediction of their risks. Advances in high throughput DNA sequencing technologies using short read lengths have enabled rapid sequencing of entire human genomes and unlocked the potential for comprehensive identification of their underlying genetic variations. Various computational algorithms for identifying and characterizing variants have been developed; however, most of these computational methods are neither integrated nor interoperable, making it difficult for biologists to extract all the genetic information from billion of sequences generated by these sequencing technologies. Here we present an efficient, modular computational pipeline to standardize and fully automate the process of variant detection from alignment of genomic sequences to detection and annotation of all types of genetic variants (single nucleotide polymorphisms, short insertion/deletions, and larger structural variations). 

Version 1.0.1 Release

[April 10, 2012] 
  • Fixed a parameter which suppressed  the output of Indels from SAMtools.

Version 1.0 Release

[Sept 19, 2011] 
  • HugeSeq v1.0 is released.
  • Added BAM support
  • Added transchromosomal rearrangement detection in binning mode

Version 1.0 Release Candidate

[July 22, 2011] 
  • The initial version HugeSeq is released for review.