Release of LoFreq version 2.1.2

A long overdue release with many, many smaller bug fixes and improvements (almost would have justified a version bump to 2.2). Main focus were the indel and somatic calling routines. By far the biggest visible change is that we got rid of the consensus variants (CONSVAR) concept and now assign qualities to all variants (in the past CONSVARs could not be filtered based on quality)

See https://github.com/CSB5/lofreq/blob/master/Changelog for full details.

Andreas

Indels in Poly-AT repeats

In Illumina data one can often observe low allele frequency indels in poly-AT regions, which are likely false positives. GATK’s BQSR rarely sets the corresponding indel qualities low enough though and so these indels often get predicted by LoFreq and they are not automatically removed. Newer versions of LoFreq (>=2.1.2) will indicate the length of homopolymer runs in which an indel was predicted (see extra VCF field called HRUN, akin to IonTorrent’s HRUN). Users might want to remove indels associated with high values, especially when the predicted indel ends in an A or T.

Andreas

Official Docker image for LoFreq 2.1.1

We have just created the official Docker image for LoFreq (currently version 2.1.1 and including samtools 1.1).

Andreas