Clinical Genomics Guide

This free app provides a brief explanation of many of the most frequently used (but often unexplained) terms used in clinical genomics, such as "FASTQ", "VCF", "gVCF", "BED files", "pLI scores" and "Z scores".

It was created to help students and professionals and also to accompany: (a) Prof Tobias's series of Clinical Genomics lectures (on the multi-award-winning MSc in Medical Genetics & Genomics at the University of Glasgow, UK), (b) his medical genetics textbooks (including "Essential Medical Genetics" and "Medical Genetics for the MRCOG and Beyond") and (c) his educational websites (www.EuroGEMS.org and www.essentialmedgen.com). The app was created by both Edward and Adam Tobias.

Prof Ed Tobias is a researcher, lecturer & clinical geneticist. He is honoured to be an invited member of the European Society of Human Genetics (ESHG) Education Committee and of the European Board of Medical Genetics and to run the EuroGEMS.org educational resources website for the ESHG. He is a co-investigator for the (whole-genome-sequencing) Scottish Genomes Partnership and a collaborator of the DDD UK exome-sequencing project.

The app has been welcomed by the European Society of Human Genetics (ESHG), DSDnet & ScotGEN. However, it is not designed for providing or replacing professional healthcare & advice. Also, the accuracy of the app's contents cannot be guaranteed.

The app is free and it is simply hoped that students & professionals, around the world, will find it useful. Feedback & suggestions can be sent by email to [email protected]. Alternatively it can be sent by using the "Contact" form at www.EuroGEMS.org or at www.esssentialmedgen.com