# Clinical Genomics Guide — Explanations of common terms

> Free clinical genomics term explanations for students and professionals. (iPhone/iPad app by Edward Tobias.)

- Source: https://appshunter.io/ios/app/clinical-genomics-guide/id998171789 (this page in markdown: same URL + `.md`)
- Developer: [Edward Tobias](https://appshunter.io/developer/921831207)
- Category: Education, Medical
- Price: Free
- Age rating: 12+
- Requires: iOS 8.0 · 54 MB
- Languages: English
- Released: 2015-10-29
- Data updated: 2026-06-11
- Monetization: free
- User reviews in markdown: https://appshunter.io/ios/app/clinical-genomics-guide/id998171789/reviews.md

## What is 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 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).

## Key features

- Explanations of clinical genomics terms
- Covers terms like FASTQ, VCF, BED files
- Supports students and professionals
- Complements lectures and textbooks
- Free to use

## Recent user reviews (8 of 8)

All indexed reviews: https://appshunter.io/ios/app/clinical-genomics-guide/id998171789/reviews.md

### 5/5 — Fantastic revision tool

*2020-05-05, version 6.4.4*

Great resource for revision!

### 5/5 — Very Useful!

*2020-04-16, version 6.4.4*

An incredibly handy tool to practice, learn and familiarise yourself with contextual genomic terminology

### 5/5 — Great app!

*2019-10-22, version 6.4.4*

Great app! Really useful for revising difficult  medical genetics concepts and practising questions. Would highly recommend.

### 5/5 — Brilliant App

*2019-03-16, version 6.4.4*

This app is lifesaver, helps to explain the terms in really simple way. Deserves the Five stars.

### 5/5 — Brief and beneficial

*2019-03-14, version 6.4.4*

Thanks for the time and effort put into the making of this application, I am sure all genomics scholars highly appreciate having a glossary of essential genomic terminology accessible along with useful explanations.Excellent effort, could not expect less!

### 5/5 — Amazing !!

*2018-03-14, version 5.3.6*

Amazing App. Very easy to use with a nice design, Helpful and very informative.

### 5/5 — Excellent

*2016-04-07, version 5.3.6*

Extremely useful glossary. Very easy to use just like clinical genomics quiz app.

### 5/5 — Awesome!

*2016-04-06, version 5.3.6*

Excellent app for learning the file types and processes involved in NGS

## Frequently asked questions about Clinical Genomics Guide

### What is Clinical Genomics Guide?

Clinical Genomics Guide is a free educational app that provides explanations for frequently used terms in clinical genomics. It aims to help students and professionals understand complex terminology.

### Who developed Clinical Genomics Guide?

Clinical Genomics Guide was developed by Edward and Adam Tobias, with Professor Ed Tobias being a researcher, lecturer, and clinical geneticist.

### Is Clinical Genomics Guide suitable for beginners?

Yes, the app is designed to help students and professionals understand commonly used but often unexplained terms in clinical genomics, making it suitable for those new to the field.

### Does Clinical Genomics Guide offer professional healthcare advice?

No, the app is not designed for providing or replacing professional healthcare advice. While it offers educational content, the accuracy of its contents cannot be guaranteed.

### What devices is Clinical Genomics Guide available on?

Clinical Genomics Guide is available on iPhone, iPad, and iPod, as indicated by its supported devices.

### How often is Clinical Genomics Guide updated?

The app's latest version is 6.4.4, and it was last updated on February 21, 2019. Users can provide feedback and suggestions via email or contact forms.

### What is the age rating for Clinical Genomics Guide?

Clinical Genomics Guide has an age rating of 12+, suggesting it is appropriate for users aged 12 and above.

### Does Clinical Genomics Guide have ads?

No, Clinical Genomics Guide is a free app and does not contain advertisements.

## Version history (last 2 releases)

### 6.4.4 — 2019-02-21

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!

### 5.3.6 — 2015-10-27

No release notes.

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## More apps by Edward Tobias

- [Clinical Genomics Quiz](https://appshunter.io/ios/app/clinical-genomics-quiz/id1080186777)
- [Genetics Inheritance Quiz A](https://appshunter.io/ios/app/genetics-inheritance-quiz-a/id1454173514)
- [Genetics Inheritance Quiz B](https://appshunter.io/ios/app/genetics-inheritance-quiz-b/id1457761243)
- [Genetics Inheritance Quiz C](https://appshunter.io/ios/app/genetics-inheritance-quiz-c/id1457773158)

All apps by Edward Tobias: https://appshunter.io/developer/921831207

## Related topics

[genomics](https://appshunter.io/ios/topics/genomics) · [clinical genomics guide](https://appshunter.io/ios/topics/clinical-genomics-guide) · [genome medical](https://appshunter.io/ios/topics/genome-medical)

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*Data collected daily from the US App Store and indexed by [AppsHunter](https://appshunter.io/). User reviews are verbatim App Store reviews. Ratings, prices and chart positions refresh continuously; this snapshot is from 2026-06-11.*
