Polona Le Quesne Stabej

I love nanopore wgs data! Picks the snvs just as well as short reads tech...superior for anything repetitive or genes with pseudogenes...and large(ish) dels

📣 Out now in Genetics in Medicine:

Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺

👉 authors.elsevier.com/a/1kDPZ3vlFV...

Broad analysis and functional genomics for best outcomes 🏆

@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social

Such a great talk! Thanks for organising! And the book is amazing too: The genome Odyssey by Euan Ashley.

Could you pls add @polona.bsky.social and @zoe-ward.bsky.social Thank you Niki!

Three genetic counsellors with genetic counsellor awareness days shirts on

Happy genetic counselor awareness day to all who observe this holiday 🧬
Genetic counselors are critical to delivery of genomic medicine. In Australia we have many genomic testing item numbers that fund testing, and yet we don’t reimburse genetic counsellors to deliver this… #genechat #medsky #gcad

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand npj Genomic Medicine - Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand

Newborn genomics and beautiful nanopore whole genomes! Stretching over deletions, tackling pseudogenes ... I loved analysing data🧬. Led by Prof J O'Sullivan's team, Liggins, University of Auckland, New Zealand, in collab with #VCGS and NBG queen @zornitza.bsky.social 🤩who is on bsky! rdcu.be/dZx7z

😆 are you supposed to be the one holding the pen...or typing on the keyboard sideways...got duomo right