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
10.12.2024 04:43 — 👍 1 🔁 0 💬 0 📌 0
📣 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
09.12.2024 06:22 — 👍 22 🔁 7 💬 0 📌 1
Such a great talk! Thanks for organising! And the book is amazing too: The genome Odyssey by Euan Ashley.
05.12.2024 05:28 — 👍 1 🔁 0 💬 0 📌 0
Could you pls add @polona.bsky.social and @zoe-ward.bsky.social Thank you Niki!
15.11.2024 19:55 — 👍 0 🔁 0 💬 0 📌 0
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
14.11.2024 06:07 — 👍 125 🔁 11 💬 4 📌 0
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
12.11.2024 07:37 — 👍 7 🔁 3 💬 1 📌 0
😆 are you supposed to be the one holding the pen...or typing on the keyboard sideways...got duomo right
10.11.2024 09:29 — 👍 1 🔁 0 💬 1 📌 0
Advocate-Author-Film Producer
BRCA, hereditary cancer
> @lovedaniellefilm.bsky.social
NEW TO BLUESKY!
Active on IG, LinkedIn, FB
Investigating genetic causes of sudden cardiac death and advocating for equitable heart health #cardiogen. Also: football, bikes, film, nature and the Wellington scene.
Aotearoa New Zealand. CIDG.org.NZ
Genomics | Science | Technology | Biotech | Nonsense | All views are my own and not those of my employer- who is not on 🦋 yet.
Particular soft spot for single cell and spatial transcriptomics and genome biology.
We are a world leader in genomics research. We apply and explore genomic technologies to advance the understanding of biology and improve health 🧬
https://www.sanger.ac.uk/
Computational biologist using omics data (imaging, gene expression) to investigate the impacts of environmental contaminants on biological systems
Group Leader @EMBL-EBI (www.ewaldlab.org)
The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from research projects.
https://ega-archive.org/
https://linktr.ee/ESHGYoung
The International Mouse Phenotyping Consortium (IMPC) is an international programme to find the function of every protein-coding gene in the mouse genome.
Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation.
https://www.varianteffect.org
https://www.linkedin.com/company/atlas-of-variant-effects-alliance
EMBL's European Bioinformatics Institute (EMBL-EBI) provides open biological data resources and tools, and performs basic research in computational biology. https://www.ebi.ac.uk/
The Ensembl project seeks to enable genomic science by providing high-quality, integrated annotation.
Vertebrates: www.ensembl.org
Non-vertebrates: www.ensemblgenomes.org
You can test the new Ensembl browser and share your feedback at beta.ensembl.org
Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
🔬Ensembl training
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
A large-scale biomedical database and research resource, that can be accessed globally by approved researchers, to enable scientific discoveries.
🔗 https://www.ukbiobank.ac.uk/
GA4GH sets standards and frames policies to expand genomic and health data use within a human rights framework.
https://www.ga4gh.org
Doctoral researcher @CeliRes_TAU | @TampereUniMet | Former member & Consultant @eshgyoung.bsky.social
Medical geneticist studying rare neurodevelopmental and neurogenetic disorders
Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
