Australia sitting on over $1 billion of unused medical research funding as scientists abandon the field - ABC News
abc.net.au/news/2026-03-0…
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Daffodil Canson
144 posts
Sharing our team's latest works on TP53 gene variants that alter mRNA splicing!
Explaining risks and improving genetic testing for the most serious of cancer gene variants - Scimex share.google/QrcdXxxS5smR4p…
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Daffodil Canson retweetledi
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset: The American Journal of Human Genetics cell.com/ajhg/fulltext/…
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Daffodil Canson retweetledi
So excited that this is out! Thanks to all my fantastic collaborators!
@QIMRB_Institute
@ClinGenResource
AJHG@AJHGNews
📢Online now from @AmandaSpurdle & co 📰Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel @ClinGenResource #BreastCancer cell.com/ajhg/abstract/…
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Daffodil Canson retweetledi
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel: The American Journal of Human Genetics cell.com/ajhg/fulltext/…
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Li Fraumeni Syndrome = increased #cancer risk
Now new #research led by our own Dr Cristina Fortuno & @AmandaSpurdle with Prof Paul James from @PeterMacCC could help detect & manage cancers earlier in people with the condition.
Read more bit.ly/48Ban3u
@nhmrc @NBCFAus
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Daffodil Canson retweetledi
Happy to share our new article in Human Molecular Genetics by Cristina Fortuno: "Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines". @NeuroGeneticsCy academic.oup.com/hmg/advance-ar…
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Ambry is proud to partner with researchers from around the world. We connected with Cristina Fortuno and Amanda Spurdle on their recent work to clarify the gene-disease relationships between CHEK2 and TP53. For more information, check out: hubs.ly/Q0258VNz0 #BreastCancer
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Interested in pursuing a PhD in cancer genomics? We're @TeamNicWaddell looking for students (National & International) with bioinformatics or computer science skills to work on this project: rb.gy/wjkfm
scholarship details: rb.gy/es8cv !!
#PhDposition
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I could be biased but I think @AmandaSpurdle @QIMRBerghofer is the best at explaining #ACMG variant classification for genes like #BRCA1, and in a way that is understandable, digestible and fun @Genetics2023 #ICG2023
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I'm hiring! I have a 2-year funded #endometrial #cancer project for a postdoc with #organoid culture experience. Based in Brisbane with views like this, how can you say no? HMU if you have Qs about the role. Applications close 6th June shorturl.at/abhlz
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In the latest edition of Inside @HGGAdvances, hear @daffodil_canson, PhD, discuss her paper, "Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes": bit.ly/43XZbNk
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Daffodil Canson retweetledi
In a new @HGGAdvances article, researchers developed a prioritization workflow & identified potentially causal endometrial cancer GWAS risk variants with plausible biological mechanisms.
Learn more: cell.com/hgg-advances/f…
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Excited to share our new paper! Shout out to our research team at @QIMRBerghofer for making this happen, @Glubbster @DrTracyO @AmandaSpurdle 💯
Human Genetics and Genomics Advances@HGGAdvances
New! @daffodil_canson et al. develop a workflow to integrate splicing prediction analysis w/GWAS data. Their analysis of endometrial cancer identifies two candidate risk variants predicted to alter NF1 and SKAP1 splicing. #OA bit.ly/3Iq0JH3
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Daffodil Canson retweetledi
Excited to report our study of #endometrialcancer #GWAS variants for effects on #splicing using a new prioritisation workflow medrxiv.org/content/10.110… @daffodil_canson @AmandaSpurdle @DrTracyO 1/8
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@bioarla Thanks for all the happy bushwalk memories, Alda. All the best!
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