Carlo Rivolta

79 posts

Carlo Rivolta

@c_rivolta

Lausanne, Switzerland Katılım Eylül 2011

37 Takip Edilen91 Takipçiler

Carlo Rivolta retweetledi

European Society of Human Genetics (ESHG)@eshgsociety·23 Oca

One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website: 2025.eshg.org/abstracts/ #genetics #genomes

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Carlo Rivolta@c_rivolta·7 Oca

Excited to share our latest results on the link between U4 and U6 #snRNAs and hereditary blindness, in collaboration with the @SusanneRoosing team and many fantastic colleagues worldwide. @IOB_ch @UniBasel @UniSpitalBasel #genetics medrxiv.org/content/10.110…

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Elfride De Baere@elfridedebaere·28 Şub

Congrats! 👌 @c_rivolta @MathieuQuinodoz @iob_basel @SusanneRoosing #EuropeanRetinalDiseaseConsortium

DiseaseGenes@DiseaseGenes

RT @FranMartinezGr: Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration. #morbidgene sciencedirect.com/science/articl…

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Carlo Rivolta retweetledi

AJHG@AJHGNews·25 Mar

Explore OFF-PEAK in greater detail github.com/mquinodo/OFF-P…

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Elfride De Baere@elfridedebaere·3 Kas

@c_rivolta explained OFF-PEAK, an original algorithm identifying copy number variants in noncoding and off-target WES or targeted NGS reads that are often overlooked by other CNV detection tools. Applications in Mendelian and acquired diseases. #ASHG23 @iob_basel #CNV #NGS #WES

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IOB.ch@IOB_ch·4 Eki

Congratulations to Mathieu Quinodoz for receiving an award from PRO RETINA DE and Retina Suisse for the project “Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity”! bit.ly/3SRpcrk

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Carlo Rivolta retweetledi

IOB.ch@IOB_ch·3 Eki

🔥 Do you want to join our team of amazing scientists and clinicians? Apply now for the new IOB PhD and MD-PhD Program on Translational Visual Neurosciences here: bit.ly/3fwyQBj #Biology #PhD #medicine #Physics #Science #neuroscience

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Carlo Rivolta@c_rivolta·2 Eyl

Post-doctoral positions in Molecular Biology, Cell Biology or Genetics now open in our team at @IOB_ch, in beautiful Basel, #Switzerland. For more information and to apply: jobs.dualoo.com/portal/xxjgcad… #molecularbiology #genetics #postdoc #postdocposition #postdoctoral

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Carlo Rivolta retweetledi

Elfride De Baere@elfridedebaere·3 May

Enjoying very much the minisymposium #ARVO2022 @ARVOinfo on variable phenotypes in ocular disorders with the excellent and crystal-clear (as always) talk from @c_rivolta @IOB_ch on the many faces of and mechanisms underlying #NMNAT1 disease 👏👏👏

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Carlo Rivolta retweetledi

Chiara Auwerx@CAuwerx·3 Mar

Excited to have my 1st first author paper out in @AJHGNews! 🤩 We explored the role of individual #CNVs and their burden in complex traits using @uk_biobank and @ESTbiobank data. Summary of findings 👉🏻 tinyurl.com/5n8kpwva. Full text in #OpenAccess 👉🏻 doi.org/10.1016/j.ajhg….

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Carlo Rivolta retweetledi

Swiss National Science Foundation@snsf_ch·2 Mar

In collaboration with Scholars at Risk Switzerland, the SNSF is providing 1 million francs to finance researchers from #Ukraine who can be hosted at a Swiss university. Other measures are in preparation. #StandWithUkraine

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Carlo Rivolta@c_rivolta·15 Şub

@elfridedebaere @IOB_ch @UniBasel_en @AJHGNews Thanks very much. We're very proud of this.

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Elfride De Baere@elfridedebaere·3 Şub

Congrats! @c_rivolta @IOB_ch @UniBasel_en A lot of #machinelearning in the new issue of @AJHGNews and in newly accepted papers 👇

AJHG@AJHGNews

New! @c_rivolta & colleagues present MutScore, a pathogenicity predictor that integrates qualitative features of DNA substitutions w/positional clustering information bit.ly/3shh07V

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Carlo Rivolta@c_rivolta·13 Şub

@_julien_roux @UniBasel_en And yes, finding a non-protein coding gene that is responsible for a Mendelian condition is quite rare.

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Julien Roux (@julienroux.bsky.social on 🦋)@_julien_roux·11 Şub

@UniBasel_en The paper seems nice, but this press release is quite messed up... Aren't long non-coding RNA genes also "genes"? Is it really a big surprise that genetic disease can be caused by something else than protein-coding genes? 😱🤦‍♂️

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University of Basel@UniBasel_en·11 Şub

Large parts of the genome contain no genes. However, researchers have discovered the cause of a serious hereditary disease in this so-called "junk DNA" that used to be considered useless. bit.ly/2Z3Z0Qf

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Carlo Rivolta@c_rivolta·13 Şub

@_julien_roux @UniBasel_en The press release uses words that can be understood by a general audience, but it is not incorrect. When we identified the DNA region containing Maenli, this really was a gene desert, since no 'convincing' transcripts (including the lncRNA itself) were annotated.

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Carlo Rivolta retweetledi

Zoltán Kutalik@zkutalik·11 Şub

Huge thanks to the very professional team, I had a very smooth start and a warm welcome! Please keep sending cool stats gen manuscripts to @PLOSGenetics, it's a pleasure to read (most of :)) them!

PLOS Genetics@PLOSGenetics

🥳 Please join us in welcoming Zoltán Kutalik @zkutalik to our Editorial Board! As an Associate Editor Dr Kutalik will be handling manuscripts in the areas of statistical genetics, association studies, and Mendelian randomization

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Carlo Rivolta@c_rivolta·30 Mar

L’informaticien qui défie la Berne officielle letemps.ch/suisse/linform… par @mfguillaume

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Carlo Rivolta@c_rivolta·24 Mar

It looks like it's going down. Let's hope that today's data confirm this trend. Sembra che i nuovi casi stiano diminuendo. Speriamo che i dati di oggi confermino questa tendenza. #iorestoacasa #COVIDItaly #COVID19 #iorestoacasa #worldometer #andratuttobene

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Carlo Rivolta retweetledi

Genetics in Medicine@GIMJournal·23 Tem

Researchers identify genetic cause of Liberfarb syndrome, a multiorgan disorder, and point to possible therapy #openaccess go.nature.com/2Swoult

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Carlo Rivolta@c_rivolta·22 Tem

Congratulations to all the authors!

IOB.ch@IOB_ch

Another exciting result of the joint efforts of our molecular researchers & clinicians: Artificial human #retinas contain cell types and #organ features of the adult human #retina, creating new opportunities for modeling #retinaldisease. biorxiv.org/cgi/content/sh…

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Carlo Rivolta retweetledi

IOB.ch@IOB_ch·9 Tem

Working closely hand in hand, our molecular and clinical researchers developed this AAV library for economic, fast and efficient cell-type targeting across species.

Nature Neuroscience@NatureNeuro

A library of AAVs, each with a different synthetic promoter, allows targeted expression in specific neuronal and glial cell types in the mouse and non-human primate retina in vivo, and in the human retina in vitro go.nature.com/2YM0Bc0

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Keşfet

@SusanneRoosing @IOB_ch @UniBasel @UniSpitalBasel @iob_basel @ARVOinfo @AJHGNews @uk_biobank