Bioinformatic processing of whole genome sequencing data with Tapir.

Area of Science:

• Forensic Science
• Bioinformatics
• Genomics

Background:

• Whole genome sequencing (WGS) presents significant potential for forensic investigations.
• The complexity and scale of WGS data pose challenges to its routine forensic application.
• A standardized analysis pipeline is crucial for reliable and reproducible forensic genotyping.

Purpose of the Study:

• To introduce Tapir, a reproducible end-to-end workflow for forensic whole genome sequencing data analysis.
• To enable the generation of GEDmatch-compatible genotyping results from raw WGS data.
• To provide forensic-relevant summary and inferential statistics.

Main Methods:

• Tapir ingests raw WGS data (Illumina BCL format).
• It integrates existing and custom tools, including GLIMPSE and BCFtools for probabilistic genotyping.
• The workflow is packaged in a virtual machine for accessibility on commodity hardware.

Main Results:

• Tapir produces a standardized genotyping result compatible with GEDmatch.
• It incorporates advanced probabilistic genotyping algorithms (GLIMPSE, BCFtools).
• The pipeline offers key forensic statistics like coverage and mixture estimation.

Conclusions:

• Tapir addresses the need for standardized WGS analysis in forensic science.
• It enhances the utility of WGS data for investigative reporting through reproducible workflows.
• The accessibility of Tapir facilitates the adoption of WGS in forensic casework.