Learning about genetics and genomics

Discussion in 'Resources' started by hotblack, Apr 24, 2025 at 8:50 AM.

  1. hotblack

    hotblack Senior Member (Voting Rights)

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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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  2. hotblack

    hotblack Senior Member (Voting Rights)

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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
     
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  3. wigglethemouse

    wigglethemouse Senior Member (Voting Rights)

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    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/

    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".
    upload_2025-4-24_8-56-44.png
     
    Last edited: Apr 24, 2025 at 5:05 PM
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  4. hotblack

    hotblack Senior Member (Voting Rights)

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    Location:
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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/
     
    Last edited: Apr 28, 2025 at 7:42 AM

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