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Course Overview

This year's course is being presented online due to COVID19. You should have received zoom contact information in your email which will be used for each day of the course. 

The course is designed to have 2 ~90 minute sections per day for 5 days, with the goal of teaching you how to preform the standard next-generation sequencing analysis to identify genomic variants. This will be accomplished through: presentations covering information essential to all types of analysis, guided tutorials to reinforce the essential concepts, and optional self guided tutorials to help you learn the skills that are most specific to your own analysis. By the end of this course, we hope to achieve the following goals:

  1. Teach you different ways next generation sequencing libraries are constructed, and the advantages/disadvantages associated with the different types. 
  2. Familiarize you with how the Texas Advanced Computing Center (TACC) can be used to simplify and speed up your data analysis.
  3. Introduce you to common ways of installing NGS analysis programs.
  4. Teach you the basics of read mapping in both individuals and populations, and identifying variants within individuals and rare variants within populations.
  5. Provide reference materials covering a breadth of material sufficient to give you a starting point of where to begin you own data analysis, and enough experience that you can begin that analysis on your own.

Your Instructor





Daniel Deatherage


Barrick Lab

Unix, Python, NGS Library Prep, Capture, Rare Variant Identification

A nod to the past

I think it important to acknowledge a great deal of help with creating these web pages and materials from previous instructors of the Intro to NGS Bioinformatics course taught in 2013 and the Genome Variant Analysis Course taught in 2014-2016. Two individuals warrant special mention, the former director of the GSAF Scott Hunicke-Smith, and Jeffrey Barrick were the driving force behind this class for a number of years, and many of the tutorials presented here were originally developed by them or adapted from their work.

Verifying setup/access week of June 15th:

In order to ensure as smooth an experience as possible, the week prior to the course, each participant needs to log into TACC and provide their TACC ID to Dan. Depending on your operating system you should complete either the window or mac tutorial below. If you are having difficulties log into the zoom between 12 and 1 any day Tuesday-Friday or send an email if you need to schedule a separate time.



Course Schedule

Monday, June 22nd. Day 1 – "The Basics"

Presentation: General Course Introduction

Tutorial: Introduction to linux and lonestar5

Presentation: Experimental Design

Tutorial: Evaluating raw sequencing data

Tuesday, June 23rd. Day 2 – "Principles of Variant calling"

Presentation: Read Mapping

Tutorial: Using Bowtie2 to map reads

Presentation: Single Nucleotide Variant Calling

Presentation: Structural Variant Calling

Tutorial: Using samtools to identify SNVs

Tutorial: Using SVDetect to identify SV

Bonus Presentation: Read Mapping Details and File Formats

Wednesday, June 24th. Day 3 – Visualization and User specific tutorials

Presentation: Errors: Where do they come from and how do we identify them as noise rather than signal?

Bonus Presentation: Alternative Library Prep Methods - for when errors really do matter.

Tutorial: Visualization: Integrated Genome Viewer Tutorial

Tutorial: Visualization: Bacterial genome variants the easiest way – breseq

At this point in the course, you have the basic tools that will help you regardless of what type of research you are involved in. The remainder of the course is full of topics that are more specific to different research areas. They are divided into broad categories to help you decide which ones you want to complete during the remaining time. If you are unsure just ask and I'll help identify ones which may be more applicable to your work.

Bacterial  Centric Tutorials

Tutorial: Installing Breseq

Tutorial: Advanced Breseq 

Tutorial: Evaluating Error Correction Using Breseq

Human and Higher Eukaryote Centric Tutorials

Tutorial: Human Trios Analysis

Tutorial: Annovar Analysis

Tutorial: Comparing Multiple samples

Tutorial: GATK

Method based Tutorials that may be of help regardless of sample type

Tutorial: MultiQC - fastQC summary tool for multiple samples

Tutorial: Read processing with trimmomatic

Tutorial: Genome Assembly

Tutorial: Novel DNA identification

Tutorial: Exome Capture Metrics

Tutorial: Error Correction (Molecular Indexing)

Friday, June 26th. Day 5 – User specific tutorials (continued) and TACC the normal way

The first half of today's class will be done as a continuation of tutorials that you are most interested in. As was the case yesterday, choose your own tutorial, and please don't hesitate to ask what tutorials would be good for you to be working on given your data! After the break, we will be go over a brief review to put things back in prospective and give you a tutorial on how to do things the 'normal way' on TACC which means using the job submission system and commands files before giving you the rest of the time to go through tutorials and ask any remaining questions.

Presentation: Genome Variant Analysis Review

Tutorial: Job Submissions and end of class summary of actions

Tutorial: Advanced mapping

Tutorial: breseq with multiple references

Post class changes:

Tutorial: Annovar Analysis

Updated to fix for inability to access reference files stored in BioITeam repositories while on idev nodes.

Addressing issues

Information for dealing with difficulties with .slurm files generated with the script

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