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Printable Handouts
Navigable Slide Index
- Introduction
- Aims
- Caveats
- Resources
- Condition overviews
- StatPearls
- GeNotes
- GeNotes search example
- Genetics Home Reference (Medline Plus)
- Genetic and Rare Diseases (GARD)
- National Organisation for Rare Disorders (NORD)
- Human Disease Genes: conditions
- GeneReviews
- OMIM
- Patient information
- M4RD
- UNIQUE
- HDG: resources for patients and families
- Gene-level information
- OMIM: pages for individual genes
- DECIPHER: gene-level information
- Using DECIPHER
- NCBI Gene
- MONARCH
- Disease-specific resources: CFTR2
- Disease-specific resources: MC4R
- Gene & variant browsers
- Two main genome browsers
- gnomAD
- DECIPHER: gene and variant assessment
- Acknowledgements
Topics Covered
- Resources for condition overviews
- Information Resources for patient information
- Resources for gene-level information
- Gene and variant web browsers
Links
Series:
Categories:
External Links
Talk Citation
Legg, R. (2025, August 31). Information resources in clinical genetics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved September 1, 2025, from https://doi.org/10.69645/NQHN8499.Export Citation (RIS)
Publication History
- Published on August 31, 2025
Financial Disclosures
- There are no commercial/financial matters to disclose.
Other Talks in the Series: Introduction to Human Genetics and Genomics
Transcript
Please wait while the transcript is being prepared...
0:00
Hello. My name is
Dr. Robert Legg.
I'm a clinical
genetics trainee at
the University of Cambridge
Hospitals NHS Foundation Trust.
I'm going to give a
talk to you today
on information resources
in clinical genetics.
0:16
Now, this lecture will be
somewhat light on content,
but it will be helpful
in your future work and
endeavours in medical genetics.
The key thing is to go from here
and experiment with the
resources that we're going
to discuss after you have
watched this lecture,
become familiar with what
they can provide you,
what they can't provide
you, and which tools are
most appropriate to the
questions you're trying to ask.
I'm going to provide a list of
commonly used resources
in medical genetics
and I'm going to give a
brief explanation and
demonstration of how to
use these resources.
0:48
It should be noted that
the resources I have listed
are predominantly UK- and
European-focused with some
from the United States
and based in English
on account of
my work in clinical
genetics in the UK.
My apologies to those accessing
these resources in other
areas of the world.
If there are any resources
I have overlooked,
I'm always interested
to hear about them.
As you might expect,
all of these resources
and links are correct
at the time that I
have made this presentation,
and they may change
over time in appearance,
access and functionality.
The nature of this
presentation means that
I cannot give you a
live demonstration,
but I will try to guide you to
the relevant parts
of each resource.
However, a key aspect
is experimentation,
and it will be equally
valuable for you to
explore these
resources yourselves.
1:34
This is the master
reference slide of
resources that we will be
discussing in this talk.
We'll break things down further,
but we can always go
back to this slide.
First and foremost,
don't forget Google.
As with many search engines,
the quality of your
results will depend
slightly on your search
terms and parameters,
but it may lead you to resources
that you might otherwise
have not have found,
likewise for GPTs and
other AI resources.
The first category of
resources we will look at