1. varPrio - Variant Prioritization tool for pedigree-based whole genome/exome sequencing data
varPrio is a tool for the prioritization of genetic variants from WES/WGS data. Variants which are relevant and associated to the disease phenotype are prioritized based on in silico predictions of damaging and disruptive mutations and based on occurrence or frequency across pedigrees and in the population. varPrio is developed as part of the The Accelerator program for Discovery in Brain disorders using Stem cells (ADBS) to study causative and contributing genetic variants in multiplex families with history of neuropsychiatric disorders. To know more about this approach, refer https://doi.org/10.1111/pcn.12788
Github page: https://github.com/husaynahmed/varPrio
2. ADBS BioinformaticsTools
ADBS consortium generates large-scale whole genome, exome and transcriptome sequencing data by recruiting families with history of neuropsychiatric disorders. The ADBS-BioinfoTools is a set of tools/scripts developed and being employed for analyzing these datasets. The set of tools and scripts in this repository help in data processing and cleaning, large-scale downstream analysis, data representation etc.
Github page: https://github.com/husaynahmed/ADBS-BioinfoTools