HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data

Abstract

Targeted sequencing of genomic regions is a cost- A nd time-efficient approach for screening patient cohorts. We present a fast and efficient workflow to analyze highly imbalanced, targeted next-generation sequencing data generated using molecular inversion probe (MIP) capture. Our Snakemake pipeline performs sample demultiplexing, overlap paired-end merging, alignment, MIP-arm trimming, variant calling, coverage analysis and report generation. Further, we support the analysis of probes specifically designed to capture certain structural variants and can assign sex using Y-chromosome-unique probes. In a userfriendly HTML report, we summarize all these results including covered, incomplete or missing regions, called variants and their predicted effects. We developed and tested our pipeline using the hemophilia A & B MIP design from the "My Life, Our Future" initiative. HemoMIPs is available as an open-source tool on GitHub at: Https://github.com/kircherlab/hemoMIPs.