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Course materials for comprehensive long-read sequencing data analysis training. Covers ONT/PacBio technologies, QC, alignment, de novo assembly, structural variant detection, and advanced applications including methylation and pangenomics. Two-module format: introductory (December 2025) and advanced (July 2026).

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Basic Bioinformatics and Long-Read Sequencing Data Analysis

Course material for a Practical Course at the University of Bari

2025/12/16-19 - Introductory Module

Fundamentals of Bioinformatics and bioinformatics environment setup for DNA sequence data analysis of short read sequence data. Main genomic data formats (FASTA, FASTQ, SAM/BAM, VCF). Hands-on exercises on all topics

Day and link to lesson Date Topics Preparation Required
Day 1 - shh 2025/12/16 Connection to remote machine none
Day 1 - bash 2025/12/17 The shell Download/install the shell
Day 2 - FastQC 2025/12/18 Assessing Read Quality Review workshop material
Setup for local machine (Option B)
Day 3 - Trimmomatic 2025/12/19 Trimming and Filtering Review workshop material
Setup for local machine (Option B)
Day 3 - Variant Calling 2025/12/19 Variant Calling Workflow Review workshop material
Setup for local machine (Option B)
Extra - R for reproducible data analysis Install R (latest version)
Install RStudio Desktop

Acknowledgments

This course material includes content adapted from Software Carpentry lessons, which are made available under the Creative Commons Attribution license (CC BY 4.0).

The sections listed above incorporate or adapt Software Carpentry materials.

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Course materials for comprehensive long-read sequencing data analysis training. Covers ONT/PacBio technologies, QC, alignment, de novo assembly, structural variant detection, and advanced applications including methylation and pangenomics. Two-module format: introductory (December 2025) and advanced (July 2026).

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