Missed variants mean missed diagnoses. At #nanoporeconf, André Reis will reveal how one assay could uncover what current testing can’t, and how this could have future potential to transform our treatment of neurodegenerative disorders. https://bit.ly/3QcrntF

🦎🔥 Bearded dragons don’t play by the usual rules! Their sex is determined by both genetics and temperature—heat can even turn genetic males into functioning females. Nature loves a plot twist! BGI 2025: bit.ly/BGI_2025 Australia: bit.ly/41Uy1Ye 🦎 #BeardedDragon #PogonaVitticeps 🌡️ #TemperatureSex 🧬

Grrrr. We don't call protein phosphorylation or acteylation epiproteomics. So let's not call RNA modification epitranscriptomics. In fact, realisitically, epigenetics has so many definitions, some of them non-overlapping, that this whole epi-XXXX (genetics/genomics whatever) is just not helping us.

🎉 Another exciting contribution from our lab this summer! 🧬 Nearly complete, gapless genome of the sex-changing central bearded dragon (Pogona vitticeps) shed new light on the mystery of reptile sex determination. Proud to be part of this collaborative effort! academic.oup.com/gigascience/...

The Sudmant lab at UC Berkeley is seeking a postdoc to work on a fully funded NIH project to understand differences in DNA repair and somatic mutation across the primate tree of life. Please spread widely to those who may be interested aprecruit.berkeley.edu/JPF05052

Today marks the end of en-JUNE-eering, the month where I focused mostly on the nitty gritty of improving genomics ML infrastructure. Here are some of the highlights:

Indigenous Data Sovereignty (#IDSoV) is deeply rooted and growing. At ANU NCIG we walk with First Nations leaders and stand in solidarity with global communities advancing data justice, self-determination, and community-led governance. #DataSovereignty @ncig2013.bsky.social

Two great Indigenous Data Sovereignty #IDSOV sessions at the European Society for Human Genomics hashtag#ESHG Canada, Australia, USA, New Zealand, Mexico and Peru represented #IFIG

ANU NCIG: Talking about our genes and our health: Introducing genetic counselling More ANU NCIG resources here: ncig.anu.edu.au/resources @ncig2013.bsky.social @blackochreomics.bsky.social @azurehermes.bsky.social @ausgenomics.bsky.social @thekidsau.bsky.social #IndigenousGenomics #FirstNations

We have launched culturally safe genomic resources to enable First Nations families to make informed healthcare decisions. Thank you to all community partners, collaborators, and leaders @blackochreomics.bsky.social @ausgenomics.bsky.social @azurehermes.bsky.social lnkd.in/etS_PBmB

Hear from @azurehermes.bsky.social on the importance of new culturally appropriate genomic resources for Aboriginal and Torres Strait Islander peoples. 🧬 Explore the resources: tinyurl.com/4s8vpyup #Genomics #IndigenousGenomics #BridgingTheGap @ncig2013.bsky.social @ausgenomics.bsky.social

Excited to share our latest work on comparing and visualizing multiple genome assemblies to identify conservation and structural variation in pangenomes with Mumemto! Check out poster 250 at #bog25 if you are here. New preprint coming very soon 👀

Fantastic opening of the #mjdf2025conference in the beautiful city of Darwin. Looking forward to exciting discussions.

Realfreq, a framework for real-time base modification analysis for nanopore sequencing, is now published in Bioinformatics. Written efficiently using C, a laptop can keep up with a @nanoporetech.com MinION sequencer, and a desktop a PromethION 2 solo flowcell. academic.oup.com/bioinformati...

Pleased to present improved genome assembly of bearded dragon (Pogona vitticeps). Read the blog post by @arthurgeorges.bsky.social at sexomics.biomatix.org/blog/post/po.... Thank you to all collaborators.

If you want to check if a human gene has copy-number changes or lands in a complex region, try pangene.bioinweb.org. Recently updated with more and better assemblies.

Adaptively integrated sequencing and assembly of near-complete genomes https://www.biorxiv.org/content/10.1101/2025.03.31.646505v1

A new Aboriginal-led online genomics research course has launched in Australia! Designed to educate scientists on the cultural, ethical, and historical context of working with Aboriginal and Torres Strait Islander communities, this course is a game-changer for respectful research. lnkd.in/gH4GtaN3

Diversity and consequences of structural variation in the human genome go.nature.com/4awEtaY #Review by Ryan L. Collins & Michael E. Talkowski @broadinstitute.org @harvard.edu @harvardmed.bsky.social

Join us on Monday, January 20, 2025 in 500 JBRC from 9 – 10 a.m., for the DREAM/CHRIM Research Rounds. Dr. Kali Dale, Dr. Ashlynn Gerth, and @joseph-yracheta.bsky.social will be presenting on “Native BioData Consortium as a Model of Self Determined Indigenous Data Sovereignty” @nativebio.bsky.social