Here we go! The first study from my lab at @LaStatale on the structural diversity of the 10q11.22 human locus is out in @genomeresearch! Huge thanks to @EichlerLab for the collaboration and to @HumanPangenome for the amazing dataset!
https://t.co/1KWYGxqvTa
The last chapter of my PhD is out as a paper combo in @AJHGNews! 🤩
Through a literature review & original study we explore the #pleiotropy of 16p11.2 BP4-5 #CNVs. 🕵🏻♀️ 🧬
#RareDisease#Genomics
📢New Review!
@CAuwerx@zkutalik & @AlexReymondESHG take a deep dive into 16p11.2 BP4-5 rearrangements
📰The pleiotropic spectrum of proximal 16p11.2 CNVs
🧬#mustread
https://t.co/sey1VrUtfG
⛅️ Sabato 20/1 si riunisce l’Assemblea permanente dei cittadini sul clima 👨👩👦 che lavorerà al Piano Aria e Clima di @ComuneMI con proposte e suggerimenti
Buon lavoro ai 90 membri estratti a sorte per rappresentare la popolazione
👉🏻 https://t.co/lOzWKEQeWs
BREAKING NEWS:
The 2022 #NobelPrize in Physiology or Medicine has been awarded to Svante Pääbo “for his discoveries concerning the genomes of extinct hominins and human evolution.”
Please RT!
Multiple postdoctoral positions to study iPSC, Drosophila, and mouse models of neurodevelopmental disorders are available my lab (funded by NIH) (https://t.co/7D37xIEo7X).
Link to my papers - https://t.co/kgAQVvFUcw
Please DM me for details.
Scientists in the Telomere-to-Telomere (#T2T) consortium have published the first complete, gapless human genome sequence. This can lead to a better understanding of our genomic variations and provide insight for missing heritability and human disease. https://t.co/zZBpKbDKHd
genomics people: GRCh38.p14 is just out, and they've provided a new BED file that masks out multiple large FALSE duplications that were discovered by the CHM13 team including many falsely duplicated genes on chr21. New data here (1/2): https://t.co/z6PIevCco4
Join us! Postdoc position in my lab to develop a high-content imaging assay to screen for drugs that modify CAG repeat size. Part of a private/public partnership with @LoQus23, Darren Monckton (Glasgow), and Bob Lahue (Galway). Close Feb 28. Pls retweet!
https://t.co/baVHvJyktB
New postdoc call to start during 2022. A fully funded postdoc position to study population genomics in a big dataset of primate WGS. Previous experience with theory and popgen required. Funded by
@ERC_Research
Please RT. Thanks! Contact me by email if interested.
“It’s clear that for the future generation, we have to act now in a very fast way.”
- 2021 physics laureate Giorgio Parisi speaks about the current climate situation at this morning's #NobelPrize press conference.
@giuligiannuzzi (now in 🇮🇹) and I (now in 🇫🇷) are pleased to welcome @ahoischen , @CAuwerx , @glennis_logsdon and many others for our “Variation and Evolution of Genome Architecture Symposium” VEGAS 😜. We are hosted in our beloved neutral territory @unil 🇨🇭by Pr Alex Reymond 🤩