Polona Le Quesne Stabej
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polona.bsky.social
Polona Le Quesne Stabej
@polona.bsky.social
DVM PhD | Researcher at the University of Auckland | Genomics, variant interpretation | Rare diseases | Cancer, Molecular Tumour Boards | Inherited cardiac diseases | 🧬
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
December 10, 2024 at 4:43 AM
Such a great talk! Thanks for organising! And the book is amazing too: The genome Odyssey by Euan Ashley.
December 5, 2024 at 5:28 AM
Could you pls add @polona.bsky.social and @zoe-ward.bsky.social Thank you Niki!
November 15, 2024 at 7:55 PM
😆 are you supposed to be the one holding the pen...or typing on the keyboard sideways...got duomo right
November 10, 2024 at 9:29 AM