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martinalexsmith.bsky.social
👨‍👩‍👧‍👦🎓🦠🎓🎓👨🏻‍💻🧬👨🏻‍🏫🏕️🥾🎣🚴🏻‍♂️🎾🏒🍺☕ Director of Ramaciotti Centre for Genomics, Associate Professor at UNSW BABS, Faculty member of the UNSW RNA Institute, Affiliated Prof @ Umontreal & CHUSJ Research Centre
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Stephen presents a case study of a child with degenerative encephalopathy. Through the establishment of the n-lorem Foundation, they developed an ASO that cured the seizures after the first low dose, then Conor could walk again! First reversal a degenerative neurodevelopmental disease #AGBTGM

submitted 29 minutes ago • 1 comment

Talking about her experience as a rare cancer survivor, @corriepainter.bsky.social first confronted by abysmal prognosis following diagnosis, shifted scientific fields, secured a large grant, but pivoted again to focus on increasing the societal impact of angiosarcoma research #AGBTGM

submitted 1 hour ago • 1 comment

@kstsosie.bsky.social summarizing the challenges of indigenous genomics and solutions thereto #AGBTGM

submitted 1 hour ago • 1 comment

@jasmineplummer.bsky.social using #Illumina spatial to light up genomic dark matter, showing that the Tech's sensitivity facilitates the study of long non-coding RNAs IN prostate cancer #AGBTGM

submitted 4 hours ago • 0 comments

After a CLR update, #Illumina now presenting advances in their single cell, 5-base solution, protein prep, spatial and connected multi-omics technologies #AGBTGM

submitted 4 hours ago • 3 comments

Stephen Kingsmore from Randy's Children Institute for Genomic Medicine singing the praises of #Illumina constellation long reads for structural variant calling. Shown here, 700kb F8 gene involved in haemophilia A #AGBTGM

submitted 4 hours ago • 1 comment

Very slick entrance to the Roche suite at #AGBTGM

submitted 5 hours ago • 0 comments

@timcoorens.bsky.social diving into the Bostonian wing of the SMaHT program (a.k.a. 'wicked SMaHT), detailing new sequencing solution for ultra high accuracy duplex sequencing, essential for detecting somatic variation #AGBTgm

submitted 5 hours ago • 0 comments

Richard Gibbs touching on the history of #AGBTGM before launching into 4 vignettes and expanding on some interesting somatic mosaicism cases, argues that we need more studies on non-malignant somatic variation. Also, refreshing to hear an Aussie accent in Florida!

submitted 6 hours ago • 1 comment

@tuuliel.bsky.social delivered an impressive Smörgåsbord of functional variant studies, testing my caffeination level this morning! Showed that eQTL + CRISPRi studies are greater than the sum of their parts.

submitted 7 hours ago • 0 comments

Richard Lifton, President of The Rockefeller University, summarizing interesting findings from large-scale Mendelian genomics projects. Mentions that some LoF variants show higher transmitted than expected, and that no more than 60% of observed genetic variation can be explained/interpreted #AGBTGM

submitted 7 hours ago • 1 comment

Two awesome talks from the #AGBTGM abstracts: (1) Dewi Moonan (EMBL) showing results from a CRISPR screen of CIS regulatory elements across 2.7M activated primary human T cells

submitted 22 hours ago • 1 comment

An overview of nanopore sequencing for pangenomes and hemi-hydroxymethylation in medaka fish brains by @ewanbirney.bsky.social Presenting results showing biased 5hmC/5mC hemimethylation at splice sites, and increased skewed hemimethylation across repetitive sequences.

submitted 23 hours ago • 1 comment

David Altshuler from Vertex Pharmaceuticals showcasing their highly effective strategy of getting drugs to market using causative human biology/genetics with minimal marketing. Average time from discovery to market is ~7 years, versus 12y industry average #AGBTGM (1/2)

submitted 23 hours ago • 1 comment

Bill Clinton giving an address to genome scientists to open up THE 25th #AGBTGM He highlighted how the $3B investment in the Human Genome Project yielded over $1T in economic benefits, not to mention all the biomedical discoveries. Reminds us that all humans are 99.5% identical and we act like it!

submitted 1 day ago • 1 comment

The one and only Matt Loose will be keynoting a long reads for cancer seminar in Sydney on March 17, also featuring local speakers Hugh French, David Ziegler, Luiza Steffens Reinhardt, Franki Tse, Marjan Naeini and yours truly. Register 👉🏻 events.humanitix.com/long-read-se...

submitted 1 day ago • 0 comments

Here's the contents of the #AGBTGM backpack (Swiss Gear) + shuttle bus welcome bag from 10X

submitted 2 days ago • 2 comments

3 flights and a couple days latter, time to rip the lid off #AGBTGM 🧬

submitted 2 days ago • 0 comments

Any #slug experts here? Trying to identify this funky #australian #invertebrate

submitted 2 days ago • 0 comments

Roche Ripple Predictions My take on how Roche SBX will roil the sequencing landscape omicsomics.blogspot.com/2025/02/roch... 🧬🖥️

submitted 4 days ago • 0 comments

Roche Xpounds on New Sequencing Technology My deep dive on this exciting new entrant omicsomics.blogspot.com/2025/02/roch... 🧬🖥️

submitted 4 days ago • 1 comment

A sneak peek at Roche’s nanopore sequencer. Really makes me wish I was going to #AGBT this year! #genomics #nanopore #sequencing sandiegomics.com/roche-has-en...

submitted 7 days ago • 3 comments

Who's going to #AGBT next week?

submitted 5 days ago • 0 comments

🌟 Client Publication Highlight! 🌟 We're proud to share a little summary of a recent study by Furnell et al (2024) who used the Ramaciotti Centre's long read (ONT) sequencing and Sanger sequencing services🧬

submitted 13 days ago • 0 comments

📆 Save the date! The #AGTA2025 Australasian Genomic Technologies Association's annual conference will be in Sydney at the UNSW Roundhouse on October 13-15. Stay tuned for more details...

submitted 13 days ago • 0 comments