Very exciting results shared by Fritz Sedlazeck @sedlazeck.bsky.social including my favourite mosaic variants. While Sniffles2 is well known, other tools from his lab can detect mosaic SVs (Sniffles2 Mosaic) and also assign them to cell types using methylation changes (Sniffmeth).
So cool! #RNGS25

Olga Pettersson from Uppsala gave a thought-provoking talk, tracing the genomic revolution and its paradigm shift.

She emphasized the need for good non-model reference genomes and also highlighted the crucial role of core facilities in genome sequencing —two very strong messages!

#RNGS25

“Choose your battles wisely" -Prof. Gang Fang @gangfang.bsky.social emphasises how important it is to take the abundance of epigenetic modifications into account while choosing appropriate methods, be it in humans or in bacteria. So well explained!!
#rngs25
@vibtrainconf.bsky.social

Alexander Hoischen from @radboudumc.bsky.social presented impressive work demonstrating how PacBio HiFi reads aid in diagnosing rare diseases. Further, his work offers potential for diagnosing more patients in future. As someone who also works on a rare disease, this is truly inspiring! #rngs25

Starting off day 2 of #RNGS25 with another insightful talk by Oliver Stegle from @dkfz.bsky.social. He emphasized the importance of computational methods, tackling problems like cell segmentation in spatial data and multimodal integration. Look out for recent tools from his lab - Segger, PRIMSO.

A very interesting talk given by Yujia Qing from @ox.ac.uk. She explained how PTMs can be identified on full-length proteins using nanopores and discussed strategies for differentiating various PTMs. Excited to see how this technology evolves in future!
#RNGS25 @vibtrainconf.bsky.social

Proud of the work presented by my promoter Prof. Rosa Rademakers! Research by @wdecoster.bsky.social identifies a repeat expansion in GOLGA8A as a major risk factor for a rare and sporadic form of FTD, opening new avenues for understanding its role in the disease. #RNGS25 @vibtrainconf.bsky.social

Simon Koplev from the Cambridge University discusses his contributions to the Human Cell Atlas. Using a gut cell atlas containing 1M cells, he highlights how certain fibroblasts are enriched in IBD patients and how specific cells exhibit shared stem cell programs. #RNGS25
@vibtrainconf.bsky.social

Kickstarting #RNGS25 with the Visium HD spatial GEX data analysis workshop by @10xgenomics.bsky.social. The 10X team touched the spatial data analysis process, from QC to downstream analyses, with live demonstrations and discussions on community developed tools. @vibtrainconf.bsky.social

Last 2 days left to register for #RNGS2025. ⏱️So, don't miss out and register!
Catch Simon Koplev's talk on the use of long reads for rare disease research.
📅19-21 March 2025
📍Antwerp, Belgium
vibbio.tech/4htR01q
#NGS #genomics #sequencing #omics

March 5th is the final deadline to register for #RNGS25!! So, don't miss out and register asap! vibbio.tech/4htR01q
Catch interesting talks by leading experts in sequencing! #NGS #genomics #sequencing #omics

The early bird deadline for #RNGS25 is in 2 days! So, don't miss out and register before the 5th of February! vibbio.tech/4htR01q
Catch Prof. Morris's talk on massive parallel genome engineering, alongside other interesting talks by leading experts in sequencing! #NGS #genomics #sequencing #omics

The early bird deadline for #RNGS25 is approaching fast! Don't miss out and register before the 5th of February! vibbio.tech/4htR01q
Engage with leaders in the field of sequencing and who knows, you might just get inspired to apply some latest methods to your own work!! #NGS #genomics #sequencing

Do you want to share how you've been using next-generation sequencing methods in your research? Submit an abstract for VIB's most coveted conference #RNGS25!

The abstract deadline is 15 January 2025.
vibbio.tech/4iJMnS0
#NGS #genomics #multiomics #epigenomics #AI #ML #sequencing #tech