About this Blog

This is a collection of notes that I (Felix Kokocinski) took working on various topics in bioinformatics, genome biology, etc. They are here to remind myself – and maybe others in similar situations.This is a personal site, not related to current or past employers. The ideas shown here might not be suitable for your requirements, […]

Microdeletion and Microduplication Syndromes in the Human Genome

Posted Posted in genome informatics, genomics, health

Small changes in the sequence of human chromosomes can have detrimental effects in the person’s health and development. The often affect multiple genes but are too small to be visible with traditional karyotyping methods. These changes seem to appear near regions of low complexity (repetitive sequence regions) with some consistency as novel mutations. The following […]