Clinical Genomics Guide
By Prof Edward, & Adam, Tobias.nConcise explanations of >40 often-used terms.
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 Tobiass 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 apps 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.comThis 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 its helpful. Thank you!
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 Tobiass 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 apps 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.comThis 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 its helpful. Thank you!
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Wow!
It's very helpful, thank you
This is amazing, easy-to-use extremely informative and very helpful resource. Thank you very much.
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.
Education is my hobby.
The app is great, concise and informative. An important guide for those who are unfamiliar with the terms used in bioinformatics.