ACES: Introduction To Short Variant Discovery
Overview
Instructor: Wesley Brashear
Time: TBD
Location:
Prerequisites: Current ACCESS ID, Linux/Unix skills
This short course uses example data to complete a standard short variant discovery pipeline, from library QC and trimming, to read mapping, and calling variants using the GATK software suite.
Course Materials
- Introduction to Short Variant Discovery (Spring 2023): PDF
Agenda
This course focuses, among others, on the following topics:
- NGS library quality control (TrimGalore!, FastQC)
- Short-read reference genome alignment (bwa-mem2)
- Alignment processing and modification (SAMtools, Picard Tools)
- Variant calling (GATK)
Note: During the class sessions many aspects of the material will be illustrated live via a login to HPRC clusters. You are encouraged to contact the HPRC helpdesk with any questions regarding cluster accounts.