bioinformatics – Bioinformatics work notes

Posted June 3, 2020Posted in bioinformatics, database, genome informaticsbioinformatics, database, genome informatics

Big Data with SQLite

I recently wanted to process genome-wide sequence data that I had extracted into 24 files ranging in size from 3 GB (Gigabytes) […]

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 July 8, 2019December 3, 2020Posted in bioinformaticsbioinformatics

CRAM format notes

CRAM files are compressed versions of BAM files containing (aligned) sequencing reads. They represent a further file size reduction for this type […]

Posted July 8, 2019March 29, 2020Posted in bioinformaticsbioinformatics

BlueFuse Multi Errors

When processing microarray or sequencing data with BlueGnome’s / Illumina’s BlueFuse Multi software information and errors are automatically recorded in a log […]

Posted December 29, 2018January 7, 2020Posted in bioinformatics, freelancing, software, technologybioinformatics, freelancing, software, technology

Life as a Bioinformatics Freelancer: The tools

Some information on what technology I found useful for doing my work for different projects as a consulting bioinformatics scientist.