Jonathan Edgerley

119 posts

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Jonathan Edgerley

Jonathan Edgerley

@Jon_Omics

Clinical Scientist specialising in rare disease genomics within the @NWGLH. @NSHCS STP alumni.

Manchester Katılım Nisan 2018
229 Takip Edilen147 Takipçiler
Jonathan Edgerley retweetledi
Jamie Ellingford
Jamie Ellingford@j_ellingford·
❗️Reanalysis of arrayCGH datasets @NWGLH uplifts genetic diagnoses❗️ We shortlisted CNVs from ~16,000 patients referred over a 7 year period. Of the shortlisted CNVs, 7.2% were reclassified as (likely)/pathogenic due to new evidence. @BurghelG @smbanka medrxiv.org/content/10.110…
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The Guardian
The Guardian@guardian·
Backlog in NHS genome service leaves families facing long wait for results #Echobox=1680516063" target="_blank" rel="nofollow noopener">theguardian.com/society/2023/a…
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Jonathan Edgerley retweetledi
Ewan Birney
Ewan Birney@ewanbirney·
Some thoughts on genomic medicine before Christmas 2022. TL;DR Genomic Medicine's near future is bright, in particular around rare disease and cancer roll out, both of which are established modalities in many healthcare systems in the world. More progress is to be expected.
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Jonathan Edgerley retweetledi
The North West Genomic Laboratory Hub
The North West Genomic Laboratory Hub@NWGLH·
📢 Thinking about applying to the @NSHCS Scientist Training Programme (STP) in Genomic Counselling? Find out more at our virtual open day on Wed 14th December 1-4pm. 📧 elisabeth.fahey@postgrad.Manchester.ac.uk or Shaun.griffin-2@postgrad.Manchester.ac.uk to register.
GIF
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(((JD))) 💙🌻
(((JD))) 💙🌻@Jobjohn·
Why @giffgaff so poor around train stations/ central Manchester/ along train lines in built up areas? Updating thread to follow…
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Jonathan Edgerley retweetledi
The North West Genomic Laboratory Hub
The North West Genomic Laboratory Hub@NWGLH·
Tickets for today’s NWGLH Virtual Open Day have now *SOLD OUT* But worry not, if you missed out or were unable to attend you can catch-up on our website after the event: NWGLH Education and Training Resources - Manchester University NHS Foundation Trust mft.nhs.uk/nwglh/nwglh-ed…
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Jonathan Edgerley
Jonathan Edgerley@Jon_Omics·
@MegHB5 In terms of tips I have in dealing with the pressures of the programme - I would say don’t sacrifice your weekends and evenings. Make sure you find the time to step away and do other things you enjoy. And if you do find yourself struggling, please do talk to someone.
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Jonathan Edgerley
Jonathan Edgerley@Jon_Omics·
@MegHB5 I think the speaker in this instance was sharing their experience in a hope that you (the audience) could learn from it. It’s certainly not an experience you should be expected to also have to go through. I agree that point didn’t come across at the time.
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Meg H-B
Meg H-B@MegHB5·
we’re at uni this week and had a talk today from past STPs about their projects! they were all really interesting and clearly had done fab jobs but one thing was really jarring and it’s stayed simmering away in me all day
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Jonathan Edgerley
Jonathan Edgerley@Jon_Omics·
@MegHB5 I would be more than happy to talk to you and your cohort again if any one you think it would be helpful?
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Jonathan Edgerley
Jonathan Edgerley@Jon_Omics·
@MegHB5 Hi @MegHB5 - I was one of the former STPs who gave a talk to you yesterday. I’ve just read your messages above and wanted to reach out to you. I think the message that you’re referring to above is not something you should expect to go through…
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Jonathan Edgerley
Jonathan Edgerley@Jon_Omics·
@MegHB5 …and I don’t feel it was representative of all former STPs experiences. As I mentioned in our brief discussion at the end, the research project was the most enjoyable aspect of my STP experience…
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Jonathan Edgerley
Jonathan Edgerley@Jon_Omics·
Excellent work by @CRowlandsBio and @j_ellingford. Identifying best computational approaches for splicing variant prioritisation, highlighting importance of functional studies to aid accurate interpretation. Superbly presented at this afternoon’s @NWGLH Educational Seminar.
Jamie Ellingford@j_ellingford

🤔 Ever wondered which prediction tool is best to identify genomic variants impacting splicing? In our latest manuscript @CRowlandsBio investigates several strategies to quantify their accuracy and impact on incorporation in clinical genetics. 🧵 1/6 nature.com/articles/s4159…

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Keşfet

@BurghelG @smbanka @x2scoops @CanGen_Chris @GenomicsRonnie @NWGLH @guardian @NSHCS