Detecting and annotating genetic variations using the HugeSeq pipeline

Deciphering 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 billions of sequences generated by these sequencing technologies. We developed HugeSeq, an integrated computational pipeline to fully automate the process of variant detection from alignment of these genomic sequences to detection and annotation of all types of genetic variations (single nucleotide polymorphisms (SNPs), short insertions or deletions (indels) and larger structural variations (SVs)).

Reference: Nature Biotechnology. 2012 Mar 7;30(3):226-9.