Clinical Genomics Guide
iOS Universel / Education
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 run by the Medical Genetics & Genomics teaching team 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) Education Committee. However, the app 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 emailed to edward.tobias@glasgow.ac.uk (or sent using the "Contact" form at www.EuroGEMS.org or www.esssentialmedgen.com).
Quoi de neuf dans la dernière version ?
This new, more comprehensive version contains twice as many definitions & explanations as the previous version. It now includes terms relating to a much wider range of genomics topics e.g. multi-nucleotide polymorphisms (MNPs), polygenic risk scores, pLI and Z constraint scores, nonsense-mediated decay (NMD), third generation sequencing, Circos genome plots and topologically associating domains (TADs).
The app has also been updated to be compatible with the latest iPhones and iOS versions. The previous version and its quiz app were installed thousands of times in over 50 countries, by both students and professionals. The app is still completely free & non-profit-making. Please do let us know if it's helpful. Thank you!
