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Bioinformatics work notes
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Bioinformatics work notes

Category: sequencing

Posted March 28, 2020November 30, 2021Posted in bioinformatics, IVF, sequencingbioinformatics, IVF, sequencing

Read-counting for PGT-A

This is an introductory article about Pre-Implantation Genetic Testing for Aneuploidy (PGT-A, formerly known as PGS) using sequencing-based read-counting. The procedure is simplified […]

Posted December 13, 2017March 29, 2020Posted in bioinformatics, sequencingbioinformatics, sequencing

RNA-Seq data quality scores

There are different ways to encode the quality scores in FASTQ files from Next-generation sequencing machines. This is important to find out before using the data and to convert between formats if necessary.

Posted October 3, 2017March 29, 2020Posted in bioinformatics, genome informatics, sequencingbioinformatics, genome informatics, sequencing

Determining Coverage for NGS Data

One of the most common question after your Next-Generation Sequencing (NGS) run is: “What is the coverage I achieved?” Unfortunately there a different definitions available for the term “coverage”.

Posted May 4, 2017October 2, 2017Posted in bioinformatics, sequencingbioinformatics, sequencing

Command-line NGS data munging

Notes about working with fasta / fastq files on the Unix command line.

Posted April 27, 2017September 26, 2017Posted in genomics, sequencinggenomics, sequencing

A DNA Sequencing History

Some of the landmarks in the history of DNA sequencing and molecular biology.

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