Amanda Spurdle

Group Leader, Molecular Cancer Epidemiology Lab @QIMRBerghofer

[Amanda Spurdle @AmandaSpurdle]

Take a look at my article! https://t.co/vq9uPJYnHH

[Amanda Spurdle @AmandaSpurdle]

check out the write-up in genomeweb via this link:
https://t.co/JX4zOLCKeM
@Onco_IdISSC

[Amanda Spurdle @AmandaSpurdle]

And well done to my international collaborators for their companion articles! Exciting to still be learning new things for use in variant classification.
https://t.co/zZhoCVslCp
https://t.co/lTjL8r1X2B
@AmbryGenetics

[Amanda Spurdle @AmandaSpurdle]

Well done to Nitsan for her first paper!! And now we are committed to using protein stability predictions in variant classification! https://t.co/2iVrmzbzHS
@QIMRB_Institute

[Amanda Spurdle @AmandaSpurdle]

First paper for 2025... https://t.co/nOA5gbLQsQ - and according to first author Cristina, results have already been used to inform a TP53 variant clinical classification... exciting!
@QIMRB_Institute

[Amanda Spurdle @AmandaSpurdle]

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

[Amanda Spurdle @AmandaSpurdle]

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
https://t.co/4ZJZWGCbyW

[Amanda Spurdle @AmandaSpurdle]

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
https://t.co/YmIG35rCED

[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
https://t.co/YmIG35rCED

[QIMR Berghofer @QIMRB_Institute]

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 https://t.co/N0lcfj7Dkf

@nhmrc @NBCFAus

[Amanda Spurdle @AmandaSpurdle]

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..
https://t.co/9GiOaNHdbp

@GenomeMedicine

[Amanda Spurdle @AmandaSpurdle]

And it would help if I included the right link - oops!
https://t.co/vJ4lH2Glaz
@QIMRBerghofer

[Amanda Spurdle @AmandaSpurdle]

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: https://t.co/mfueepDvoK
@QIMRBerghofer

[Australian Genomics @AusGenomics]

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.
👉 https://t.co/uAcQb2Fr9l
@JMG_BMJ @EmmaTudini @MatildaHaas @AmandaSpurdle

[Amanda Spurdle @AmandaSpurdle]

Find out more here: https://t.co/sK6sP0OnTP
#genetic #genes #DNA #variants #collaboration #science #medicalresearch #research #diagnostic #laboratories #patient #treatment

[Amanda Spurdle @AmandaSpurdle]

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.

[Amanda Spurdle @AmandaSpurdle]

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