Amanda Spurdle
22 posts
Amanda Spurdle
@AmandaSpurdle
Group Leader, Molecular Cancer Epidemiology Lab @QIMRBerghofer
Brisbane, QLD, Australia Katılım Kasım 2022
6 Takip Edilen45 Takipçiler
check out the write-up in genomeweb via this link:
genomeweb.com/informatics/st…
@Onco_IdISSC
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And well done to my international collaborators for their companion articles! Exciting to still be learning new things for use in variant classification.
sciencedirect.com/science/articl…
sciencedirect.com/science/articl…
@AmbryGenetics
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Well done to Nitsan for her first paper!! And now we are committed to using protein stability predictions in variant classification! sciencedirect.com/science/articl…
@QIMRB_Institute
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First paper for 2025... pubmed.ncbi.nlm.nih.gov/39780207/ - and according to first author Cristina, results have already been used to inform a TP53 variant clinical classification... exciting!
@QIMRB_Institute
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well done cristina for leading yet another paper, and thanks to our collaborators who made it possible!
European Journal of Human Genetics
10.1038/s41431-024-01705-9
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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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So excited that this work has got out - a summer project that ended up being published - woo hoo!
AJHG@AJHGNews
📢New @AJHGNews 📰Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease 🧑🤝🧑@VillaniRehan @AmandaSpurdle & colleagues cell.com/ajhg/abstract/…
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Amanda Spurdle retweetledi
📢New @AJHGNews
📰Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease
🧑🤝🧑@VillaniRehan @AmandaSpurdle & colleagues
cell.com/ajhg/abstract/…
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Amanda Spurdle retweetledi
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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Great news when the major product of a PhD gets into real print! Well done Aimee et al on showing that WGS can improve diagnosis of suspected hereditary cancer..
doi.org/10.1186/s13073…
@GenomeMedicine
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And it would help if I included the right link - oops!
qimrberghofer.edu.au/news/study-fin…
@QIMRBerghofer
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I am delighted to share that the @ClinGenResource SVI splicing subgroup paper, a huge collaborative effort building on research from my lab and others, has recently been published in @AJHGNews
Now for the next phase of research!
Read more: qimrberghofer.edu.au/xxxxx
@QIMRBerghofer
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Amanda Spurdle retweetledi
New @AusGenomics & @QIMRBerghofer study calls for national laboratory policies re the management of medically significant genetic variants unrelated to the initial reason for requesting a genomic test.
👉 bit.ly/3Xwmr1j
@JMG_BMJ @EmmaTudini @MatildaHaas @AmandaSpurdle
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Find out more here: qimrberghofer.edu.au/news/shariant-…
#genetic #genes #DNA #variants #collaboration #science #medicalresearch #research #diagnostic #laboratories #patient #treatment
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As Shariant continues to expand, we are so grateful to @AusGenomics for its support & our collaborators across the country including @QIMRBerghofer @CCB_Research @TeamVCGS @scott_lab_gmp @ZornitzaS @davmlaw
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I am excited to share that the #Shariant story has been featured in @AJHGNews. The result of years of work with @EmmaTudini @QIMRBerghofer & our wonderful collaborators like @CCB_Research, this @AusGenomics project is already helping improve patient outcomes.
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