Beth Coad
I'm a Genetic Counsellor and Honorary Clinical Lecturer in Cancer Genomics.
Activity
-
Beth Coad replied to Ana Ortega-Franco
Hi Ana, Thank you for highlighting the issue with the links. All three should now work!
As for finding the variant information it shouldn't be restricted at all once you have registered an account. However, sometimes you may need to start typing the variant and leave it a second for the drop down list of variants to appear. Then select the correct one from...
-
Beth Coad replied to Rebecca Bastock
Hi Rebecca, Thanks very much for highlighting this - it's a great reminder that it's always good practice to use the links we provide which should point everyone with up to date information given how quickly things change in this field.
I have now updated the step table to mirror the CanVIG-UK guidance as of 07/03/2022. -
Hi Nirvana, This is a great example of Rebecca's point above, as this would have previously been correct at time of this step being published, but as per the latest guidance not quite - there is now score of 2 in total for both families, which would be equivalent to moderate strength rather than strong. We will update the step to avoid any confusion around the...
-
Two great spots Emma - corrections made!
-
Beth Coad replied to Eduardo Fonseca
A great suggestion Eduardo, here's a link to the Health Education England Genomics Education Programme website: https://www.genomicseducation.hee.nhs.uk/
-
Beth Coad replied to Helen Whitehouse
Hi Helen and Ana,
Thanks for pointing it out - The CanVar website has been updated since this step went live, so I will now add a few example variants to the text of this step to address this!
-
Beth Coad made a comment
Some really great thoughts so far from everyone - For those who have completed our fundamentals of variant interpretation course, thinking back to the shortcomings of population data still lacking diversity could we see any advantages or disadvantages of population screening considering this?
-
Yes that's true, it is rare but we have definitely been able to do this in some lucky cases! However in practice we are much more likely to extract DNA from a stored tissue sample now in cases like these, but this of course adds an extra level of complexity!
-
Sadly not something we are able to change, but would recommend everyone uses the right click option to open any links in a new tab!
-
Cystic fibrosis is more an example of a monogenic condition due to pathogenic variant sin both copies of the CFTR gene. Here we are thinking more about about conditions caused by lots of different factors, such as heart disease as mentioned below
-
Beth Coad replied to Eduardo Fonseca
Hi Eduardo, this is an advanced course designed for those with up to date knowledge in genomics. If you would like a current reminder of some more basic principles before continuing this course we would recommended these MOOCs:
https://www.futurelearn.com/courses/the-genomics-era/17
https://www.futurelearn.com/courses/next-generation-sequencing/11... -
Beth Coad replied to deepthi paidipati
Thank you for highlighting this Deepthi. We have now added the term intron to the glossary, as later on in the course we will look at interpreting some intronic variation and how this can affect splicing.
We tend not to use the term 'junk DNA' anymore for the exact reason you say, it's not really junk at all and can play a part in some genetic diseases.
-
Beth Coad made a comment
Thank you both for your comments, the links around to different steps to the course are being looked into.
-
Beth Coad made a comment
Thank you Helen and Zena we will look into these errors
-
Thanks for your feedback everyone, it looks like the website may have had a very recent update making the search page look a little different to when we created this step, so we will work on making some clearer guidance and an example like the answer sheet as well.
-
This seems to be a common glitch. I have found that refreshing the page on Varsome can often help with this. I have added a note about this in the first step we discuss this tool now as well, so hopefully other learners shouldn't have this issue in the future.
-
While this is the main consideration, its also possible that these tools may not be fully up to date.
These free tools can also sometimes be limited to a few searched per day if you aren't using the paid for version, so if you are looking at lots of variants in one day you may have limited access.
-
Thanks Zena, you aren't the only one with this problem so we will get our team to look into fixing these links!
-
Beth Coad replied to joanna millen
Thanks for this Joanna, we will look into getting this sorted
-
@ZoeKemp and all. Thanks so much for the helpful feedback. We've added a little more to the over to you as some guidance here. We hope this makes it easier for learners to consider what we are asking.
-
Thanks Joanna helpful feedback - as we cover these later in the course I have noted this.
-
Thanks Zena - corrected
-
Beth Coad replied to Melody Redman
Thanks melody - corrected now
-
Beth Coad replied to Noelle Cullinan
Thanks Noelle - edited
-
Beth Coad made a comment
Lots of versions of the right answer here. For more on this head to: https://www.nature.com/articles/s41588-020-00755-1?utm_medium=affiliate&utm_source=commission_junction&utm_campaign=3_nsn6445_deeplink_PID100052172&utm_content=en_textlink&CJEVENT=c82a8e1a784011ec81ac7cb70a180514
-
Beth Coad replied to Helen Bethell
Hi Helen,
Thank you for this feedback.
These sections are really for all of the learners to interact so any problems you spot like this do feel free to drop me an email directly.
