genome informatics – 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 April 21, 2020June 12, 2020Posted in genome informatics, genomicsgenome informatics, genomics

Telomeric Regions of the Human Genome

Telomeres form caps on the ends of chromosomes that prevent fusion of chromosomal ends and provide genomic stability. During gametogenesis, reprogramming of the germ […]

Posted February 21, 2020January 21, 2021Posted in genome informatics, genomics, healthgenome informatics, genomics, health

Microdeletion and Microduplication Syndromes in the Human Genome

Small changes in the sequence of human chromosomes can have detrimental effects in the person’s health and development. The often affect multiple […]

Posted December 13, 2017December 13, 2017Posted in bioinformatics, genome informaticsbioinformatics, genome informatics

The CCDS project

The CCDS project tries to identify a core set of human and mouse protein coding regions in a stable manner.

Posted December 13, 2017March 29, 2020Posted in bioinformatics, genome informaticsbioinformatics, genome informatics

Genomic Start Coordinates

There is always confusion about different notations of the start coordinates of genomic features between different genome browsers and file formats.