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Sarah Kummerfeld @skummerf

Chief Scientific Officer, Garvan Institute

Joined May 2013
  • Tweets 188
  • Following 221
  • Followers 336
32 Photos and videos
Whirlwind tour by @Hasindu2008 of open-source tools developed by @GenTechGp for scalable, efficient Nanopore analysis. TL;DR the tool set is faster, fully featured and has fewer dependencies than alternatives. #ISMB2024
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Superb keynote @thesteinegger on protein analysis in the era of accurate structure prediction. These methods are opening up new subfields, eg 35% of structure clusters have no annotation. Also a strong case for open sourcing early, Foldseek had 20M hits before pub. #ISMB2024
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Excellent talk by @michaelhoffman predicting transcription factor binding. Old school motif-based approaches are not the answer, most TF binding sites lack TF’s sequence motifs. #ISMB2024 1/
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Better model incorporates matched expression, chromatin accessibility, conservation, cell with TF binding and sequence motifs.
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Luis Pedro Coelho@luispedrocoelho
24 Jun 2024
Last year, a lot of people seemed to appreciate a cleaner schedule of #ISMB2024 so I updated it this year ismb-schedule.luispedro.org/

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Great talk by DRAGEN lead developer @mehio_rami “It’s still fast. We keep adding functionality, so not easy to keep it fast.” Mapping 7 min, graph pangenome reference, improved accuracy, customised multi-genome reference. Critical advances for inclusive genomics. #ISMB2024
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Improved accuracy is particularly impressive in difficult genes (e.g. clinically relevant with paralogs, SMA, PMS2). Now also handles mosaic alignment
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Who is at #ISMB2024? I'm excited to be back for the first time since Glawgow 2004. The line up is huge this year. Kicking off with the tech stream hearing from Shoba Ranganathan about national compute infrastructure in Singapore
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Daniel Severo@_dsevero
27 Jul 2023
Best poster award
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Lachlan Coin@lachlanjmc
18 Jul 2023
We are advertising for a bioinformatician/computer scientists to join our team to work on predicting outcome from cardiac bypass surgery using multi-omics. I am at #ICG2023 this week if anyone wants to discuss! jobs.unimelb.edu.au/en/job/9…
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Jillian Hammond@jil_hammond
17 Jul 2023
Come to booth 70 to hear about our Garvan sequencing platform. You could even win a slab of beer! @GenTechGp #ICG2023
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Superb talk from @drneavin identifying ancestry/admixture from single cell datasets. We have a long way to go to represent global diversity. @drjosephpowell #ICG2023
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Indigenous Genomics requires an inclusive approach, but that alone isn't enough. Prof Alex Brown covers the importance of equity and sovereignty to make genomic medicine accessible for all Australians. @AusGenomics
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Genomic Education Network of Australasia led by @ClaraGaff and @bronwynterrill is now 200 strong, leading the way on genetics and genomics education for healthcare professionals. The resources they have developed are being used broadly here and internationally. @AusGenomics
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Toolkit to support implementation of inclusive, person-centric genetic healthcare. @emmagenetics leading the way in co-design with patients and their families. Opportunity to provide feedback now. @AusGenomics
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DNA Screen led by @JaneMTiller & @PaulLacaze shows Australians are onboard with using medically actionable genetic information in healthcare. In the first 24 hrs of the study 10k people signed up! Almost 100 individuals have already received actionable results. @AusGenomics
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Now we need legislation to catch up and protect Australians against genetic discrimination by insurers.
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Early and ultra-rapid genomic sequencing of sick newborns dramatically improves outcomes and saves the healthcare system money. Great work by @ZornitzaS and @AusGenomics
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On my way to Melbourne for #icg2033 - looking forward to a massive week of science! Who will be there?
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Congratulations @ProfJudyKay !
Bob Kummerfeld@BobKummerfeld
6 Jul 2023
Congratulations to Prof. Judy Kay, recipient of the lifetime achievement award at the Artificial Intelligence in Education conference in Tokyo, Japan
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