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 | 🧬
Reposted by Polona Le Quesne Stabej
📣 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
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
December 9, 2024 at 6:22 AM
📣 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
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
Reposted by Polona Le Quesne Stabej
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
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
November 14, 2024 at 6:07 AM
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
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
rdcu.be
November 12, 2024 at 7:37 AM
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