Out today in Bioinformatics is an applications note describing our Olorin software. Olorin is an easy to use tool for filtering variants identified by high throughput family sequencing studies. Using Olorin, variants can be prioritized based on haplotype sharing across selected individuals in a pedigree as well as many other measures such as predicted functional consequence and population frequency.
Olorin was developed in order to support the analysis of large complex disease pedigrees where both exome or genome sequencing and within-family linkage analysis has been applied to identify family-specific, high-penetrance mutations.
Olorin works by importing haplotype sharing estimates generated by MERLIN which are used to identify genomic regions shared by affected individuals. The variants contained in the identified regions are then extracted from a VCF file, the user can then further filter the list of variants using realtime filtering tools based on information contained in the VCF file.
We hope that Olorin will fill the gap for interactive tools that allow researchers to efficiently analyze large volumes of sequence data in multiply affected families that is currently not met. In addition to being valuable for newly designed studies, we believe Olorin will offer new life to long-held collections of DNA from large pedigrees that can now be cheaply sequenced.
Olorin has been written using Java so is simple to install and run on any platform with Java 1.6 or later installed.
If you would like to give Olorin a try then you can download here.