Scott_lab_GMP
@scott_lab_gmp
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Lab in Genetics and Molecular Pathology, integrating research and diagnostics on projects ranging from early development until (blood) cancer progression.
Adelaide, South Australia
Joined August 2021
Our cornetto work is now published at https://t.co/9y00QcmBfF Cornetto can do near-T2T assembly using @nanopore adaptive sampling (readfish by @mattloose) & hifiasm by @ChengChhy - with less 💸 - reference agnostic, so works for non-humans - not just blood, even saliva
nature.com
Nature Communications - Long-read sequencing enables high-quality genome assemblies, but challenges remain. Here, the authors introduce Cornetto, a method that improves assembly quality, enables...
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We are honoured to welcome clinician-scientist Prof @StevenLane_QIMR from @QIMRB_Institute as a speaker to #NDLR2026. Steven’s research concentrates on understanding how #leukemia stem cells in #AcuteMyeloidLeukemia and #MyeloproliferativeNeoplasm can regenerate leukemia.
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lets go!
🧬We're proud to share that the MoST-LLy study has now received 200+ patient referrals! The program tests for genetic mutations in someone’s #bloodcancer and recommends alternative treatments & clinical trials. 📲 https://t.co/zrBSPP93vZ
@QIMRB_Institute @tourdecure_aus
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Look forward to seeing this Stellar scientist in Australia!
We are honoured to welcome Professor John D. Crispino, from @StJude as speaker to #NDLR2026. John’s research focuses on mechanisms of #Leukemia development in children with Down syndrome and the malignant progression of #MyelodysplasticSyndrome and #MyeloproliferativeNeoplasms.
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Germline genetic variation has been linked to both hematologic cancer and clonal hematopoiesis. But does germline variation influence the likelihood of CH progressing to cancer? And if so, why? We tackle these questions here in @NatureGenet
https://t.co/oICxxJHhI3
nature.com
Nature Genetics - The relationship between pathogenic germline variation, clonal hematopoiesis (CH) and risk of hematologic malignancy is explored in 731,835 individuals across 6 cohorts. Carriers...
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A special visitor hopped into @CCB_Research today! The Easter Bunny made a surprise stop with chocolate treats and a delicious morning tea featuring hotcross buns. A fun and festive break for the team! #EasterAtWork #MorningTea #CentreforCancerBiology
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Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome - spectrum of #CH and #Cytopenias in 195 patients with #DDX41MTGPS @Yael_Kusne @TalhaBadarMD @MayoCancerCare
pubmed.ncbi.nlm.nih.gov
Germline variants in DDX41 (DDX41MT-germline predisposition syndrome [GPS]) are associated with predisposition to haematological malignancies (HM), including lymphoid and myeloid neoplasms (MN). We...
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A call to programming minded bioinformaticians or visa versa with a bent to do good deeds... Are you still on X? Join us! @AusGenomics @HGSAAustralasia @davmlaw SEEK:
seek.com.au
Find your ideal job at SEEK with 1 Shariant job found in Australia. View all our Shariant vacancies now with new jobs added daily!
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Reminder that WE ARE HIRING! Come join our super fun team at @GarvanInstitute We are looking for a postdoc to work on our MRFF-funded Elusive Hearts study aimed at identify novel causes of monogenic heart diseases. Plz RT @GarvanInstitute #cardiogen
https://t.co/Eab5euGAOZ
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CCB’s Professor @claudine_bonder was awarded a Medal of the Order of Australia (OAM) in the General Division in this year’s Australia Day Honours list, for her service to medical research. Congratulations Claudine!
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Happy to have had a chat about some of our recent work in inherited hematological diseases and pregnancy loss published as a CAHLN Research Pulse podcast. Team effort. @SAPathology @CCB_Research @UniversitySA @SAHealth
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Scott_lab_GMP is now on https://t.co/dozkYTUR7N. Please find us there.
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The National Consultation on the Genomics Health Futures Mission refreshed Roadmap and Implementation Plan closes tomorrow. Submit your response here: https://t.co/Icj1YUTtH8
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Fabulous to be part of a collaborative network, over 400 local, national and international team members from a range of disciplines (clinical and laboratory diagnostics, basic and applied science) at varying career stages. But for the families. @CCB_Research @UniversitySA
Proud to be part of the Genomic Autopsy Study team and the work that we do to help families impacted by pregnancy and early neonatal loss. Thanks to all that have helped us and collaborated with us, definitely a team effort @SAPathology @unisaresearch @AusGenomics @scott_lab_gmp
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👏 Great to see this paper out now in @NatureRevGenet! Read more 👇
👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏 👉Best practice examples and 12 actions we can all take together 👉 https://t.co/u81JZhxvfX
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
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Beyond excited to finally be able to share this manuscript after years of work! It provides the first evidence that #circRNAs accumulate in human placental tissue with #ageing and in #stillbirth, as well as a potential #mechanism for stillbirth pathology. https://t.co/jKRaRldOUO
biorxiv.org
![Graphical Abstract][1] Graphical Abstract Unexplained stillbirth is hypothesised to occur due to premature placental ageing, with unexpected deterioration of placental function for gestational age....
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Australia to completely ban the use of genetic information in life and disability insurance. A huge win for the genetic disease community, for research participants and researchers, and for @JaneMTiller and others who tirelessly campaigned for this change!
abc.net.au
Life insurers and those offering income protection and permanent disability insurance will be banned from using genetic testing to refuse cover after a government crackdown.
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Congrats to Prof Gordon Smyth on winning the @eurekaprizes for Excellence in Research Software 🏆 The award recognises his pivotal role in developing limma, a widely used tool which has helped researchers detect changes in gene activity. 👏👏 Read more👇
wehi.edu.au
WEHI’s Bioinformatics division head, Professor Gordon Smyth, has won the 2024 Eureka Prize for Excellence in Research Software.
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🏆 Professor Gordon Smyth @WEHI_research is awarded the @ARDC_AU Eureka Prize for Excellence in Research Software. #EurekaPrizes Learn more: https://t.co/xSOqLAIqtn
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Congratulations Gordon!
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