Sarah Kummerfeld

Chief Scientific Officer, Garvan Institute

[Sarah Kummerfeld @skummerf]

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

[Sarah Kummerfeld @skummerf]

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

[Sarah Kummerfeld @skummerf]

Better model incorporates matched expression, chromatin accessibility, conservation, cell with TF binding and sequence motifs.

[Sarah Kummerfeld @skummerf]

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/

[Sarah Kummerfeld @skummerf]

@Psy_Fer_ Agreed. Rami acknowledged this and explained they have focused on known clinically relevant genes to start.

[Sarah Kummerfeld @skummerf]

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

[Luis Pedro Coelho @luispedrocoelho]

Last year, a lot of people seemed to appreciate a cleaner schedule of #ISMB2024 so I updated it this year

https://t.co/Cn22OAoTHt

[Sarah Kummerfeld @skummerf]

@michaelhoffman 🙋‍♀️will message you!

[Sarah Kummerfeld @skummerf]

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

[Sarah Kummerfeld @skummerf]

@OdedRechavi Good to see your posts to know your are physically okay. Thinking of you from across the world.

[Daniel Severo @_dsevero]

Best poster award

[Lachlan Coin @lachlanjmc]

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! https://t.co/QVjL23yCV9

[Sarah Kummerfeld @skummerf]

@academic_exit After my postdoc I spent 10 years in industry before moving back in to academia 5 years ago. I have no regrets about either decision. Both have been huge growth experiences and have pros and cons.

[Jillian Hammond @jil_hammond]

Come to booth 70 to hear about our Garvan sequencing platform. You could even win a slab of beer! @GenTechGp #ICG2023

[Sarah Kummerfeld @skummerf]

Superb talk from @drneavin identifying ancestry/admixture from single cell datasets. We have a long way to go to represent global diversity. @drjosephpowell #ICG2023

[Sarah Kummerfeld @skummerf]

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

[Sarah Kummerfeld @skummerf]

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

[Sarah Kummerfeld @skummerf]

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

[Sarah Kummerfeld @skummerf]

Now we need legislation to catch up and protect Australians against genetic discrimination by insurers.

[Sarah Kummerfeld @skummerf]

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