Clinical Genomics Guide
1K+
Downloads
Everyone
info
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 edward.tobias@glasgow.ac.uk. Alternatively it can be sent by using the "Contact" form at www.EuroGEMS.org or at www.esssentialmedgen.com
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 edward.tobias@glasgow.ac.uk. Alternatively it can be sent by using the "Contact" form at www.EuroGEMS.org or at www.esssentialmedgen.com
Updated on
Data safety
Developers can show information here about how their app collects and uses your data. Learn more about data safety
No information available
What's new
This new, more comprehensive version contains twice as many definitions & explanations. It now includes terms relating to a much wider range of genomics topics e.g. polygenic risk scores, pLI and Z constraint scores, third gen sequencing & Circos genome plots. 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!
