Learning about genetics and genomics

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I’ve recently found the NHS Genomics Education programme website, which includes a lot of resources, but the Bitesize genomics videos such as ‘What is genomics?’ and ‘What is Bioinformatics?’ are good accessible introductions.

https://www.genomicseducation.hee.nhs.uk/education/

https://www.genomicseducation.hee.nhs.uk/education/core-concepts/what-is-genomics/
https://www.genomicseducation.hee.nhs.uk/education/core-concepts/what-is-bioinformatics/

I’ll add other resources later but particularly with DecodeME thought this worth highlighting

 

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I went down a rabbit hole on Transcription Factors too

Text
Nature
Transcription
https://www.nature.com/scitable/definition/transcription-87/

Transcription factors
https://www.nature.com/scitable/definition/transcription-factor-167/

Khan Academy
Transcription factors
https://www.khanacademy.org/science...ialization/a/eukaryotic-transcription-factors

Wikipedia
Transcription factor
https://en.m.wikipedia.org/wiki/Transcription_factor

Video
Khan Academy
DNA replication and RNA transcription and translation
https://www.khanacademy.org/science...-into-rna/v/rna-transcription-and-translation

Regulation of transcription
https://www.khanacademy.org/science...of-dna-into-rna/v/regulation-of-transcription

Cellular specialisation
https://www.khanacademy.org/science...ion/v/cellular-specialization-differentiation

AK Lectures
RNA transcription
https://aklectures.com/lecture/replication-transcription-and-translation/rna-transcription


Wider gene expression and regulation resources
The whole Khan Academy module on gene expression and the central dogma is probably worth following if you’re interested in this
https://www.khanacademy.org/science/biology/gene-expression-central-dogma

Or if you’re feeling very brave (I’m not currently!) there’s a longer AP/College biology module on Gene Expression and Regulation
https://www.khanacademy.org/science/ap-biology/gene-expression-and-regulation

 

[wigglethemouse]

For those that have data a person with ME/CFS has provided a genetic panel screening tool called GenVue which has been around since 2012 (old name Genetic Genie). The tool screens out known dodgy variants and links to national databases such as Clinvar for analysis. It's a good first step tool, but you still need to learn a lot (such as the above) to know what you are looking at.
https://genvue.geneticgenie.org/

Here is the info about the author Kyle and the history of the tool.
https://geneticgenie.org/about/
https://geneticgenie.org/about/
There are some public genetic data examples on the web (such as the 23andme founder) that you can use if you want to play with the Genvue tool.

A public tool I really like for analyzing VCF report files is gene.iobio. Some of the WGS testing sites include a custom version of it in their tools. It is good for exploring disease phenotypes that might be relevant to your disease. To get a feel you can play with demo data.
https://gene.iobio.io/

Here is a screenshot using the demo data for the "small fiber neuropathy" phenotype. It highlights that the AR gene has a variant rated #1 for Small Fiber Neuropathy. However it does warn you that the depth is only 5 reads and another warning symbol stating "Questionable Sequence Depth".

 

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I’ve just come across this place which may be useful to some, it’s a bit screen heavy for me but for those who want a visual or interactive learning experience it could be useful

LabXChange
The Basics of DNA
https://www.labxchange.org/library/pathway/lx-pathway:1d8c2b7c-2bcc-4b1c-a995-655c3107771d

The Central Dogma
https://www.labxchange.org/library/pathway/lx-pathway:6eb96ce2-1127-4557-b8bf-9965c81088e9

It also reminded me OpenStax has great textbooks, here’s their Biology ones
https://openstax.org/subjects/science#Biology

Another quite accessible introduction with more visual and interactive elements
University of Utah
Basic Genetics
https://learn.genetics.utah.edu/content/basics/