Clinical Genomics Guide

Edward Tobias & Adam Tobias

About this app

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 [e-mail]. Alternatively it can be sent by using the "Contact" form at www.EuroGEMS.org or at www.esssentialmedgen.com

Ratings and reviews

This app is very useful on people related with clinical genomics. It helps us differentiate the several definitions that might be used on several softwares or databases. It is very easy to use and all the definitions are stated clearly and with pictures. It can also be used for educational purposes such as university assignments.

this app is good to understand the terminology used in medical genomic and bioinformatics. I would like to encourage developers to make these kinds of apps and easy ui to make newbies to understand. great job keep it up

Great app and very helpful! It is a very useful tool for any student, health professional, or anyone interested to learn more on clinical genomics!

What's new

This slightly updated version, still contains many definitions & explanations. The previous versions and the quiz app have been installed thousands of times in over 50 countries, by students and by professionals. The app remains completely free & non-profit-making. Please do let us know if it's helpful. Thank you.