SoniaRuiz

Research Fellow | Working on #humantranscriptomics | Computer Scientist 💻 at @UKDRI University of Cambridge

[SoniaRuiz @sonigruiz]

Hot of the pre-print press!🔥I'm really excited to share with all of you our latest in-depth characterisation of #splicingaccuracy across human introns and tissues🗞️
@UCLchildhealth @LieberInstitute @GTExPortal @biorxivpreprint @ASAP_Research #scitwitter
https://t.co/ARUZeAfybe

[SoniaRuiz @sonigruiz]

This has been an extensive collaborative team effort! Thanks to @em_ka_gu @JonathanBrento2 @mgrantpeters @ZhongboC ReginaHReynolds @lcolladotor AineFairbrother-Browne and many more from our lab (RytenLab https://t.co/WKqMQgtTYQ)🥼🧑‍🔬👨‍🔬👩‍🔬🧪

[SoniaRuiz @sonigruiz]

New in @NatureComms: I'm thrilled to share with you our latest work that applies #srRNAseq to understand splicing accuracy across human introns, tissues and in the context of ageing and neurodegeneration https://t.co/KapUzy4OQP

[SoniaRuiz @sonigruiz]

Overall, this in-depth characterisation of splicing accuracy can expand our understanding of the role of inaccuracies in ageing and neurodegenerative disorders.

[SoniaRuiz @sonigruiz]

Methods 📐In this work, we investigate splicing accuracy using short-read RNA-sequencing data from >14k control samples and 40 human body sites, focusing on split reads partially mapping to known transcripts in annotation.

[Burge Lab @daSpliceIsRight]

First: we are proud to present RBPamp, a biophysical model of protein-RNA interactions and associated algorithm to query affinity of proteins for different RNA sequences from RBNS data https://t.co/TCYdk3OCEo

[Zhongbo Chen @ZhongboC]

Great first day at #icar2024. Moving accounts on the impact of #ataxia on those affected, advances in disease modelling, promise of therapeutics on the horizon & keynote from @NINDSdirector on many exciting initiatives! Looking forward to the next few days!

[Lieber Institute @LieberInstitute]

Congratulations, @lahuuki!

[SoniaRuiz @sonigruiz]

@lcolladotor @LieberInstitute haha

[UCLH @uclh]

A new BBC documentary explores the discoveries made by researchers at @ucl and UCLH that have given hope for #AlzheimersDisease, and the family that helped make it happen.

Watch #jenningsvsalzheimers on @BBCTwo 9pm 13 May 2024.

Read more https://t.co/4tvZ5p3yjK @brain_appeal

[UCL Great Ormond Street Institute of Child Health @UCLchildhealth]

British toddler has hearing restored in world first gene therapy trial - The Guardian https://t.co/7LqIVO8BNh

[The Nobel Prize @NobelPrize]

Physicist Peter Higgs has passed away at the age of 94. The Higgs particle, often called the God particle, is named after him.

Higgs was awarded the 2013 physics prize for the theory of how particles acquire mass.

Watch our interview with him: https://t.co/GnWRXnsyGx

[Nature Methods @naturemethods]

SQANTI3 is the latest version of the SQANTI tool, offering a flexible approach for quality control, curation, and annotation of long-read RNA sequencing derived transcriptomes. @anaconesa @ConesaLab

https://t.co/ffz6oSufGL

[AnaConesa @anaconesa]

Super proud of my team for seeing the #SQANTI3 paper published today in @naturemethods. Thanks to all who contributed to this milestone of the @Conesa_Lab @FJPardoPalacios @aarzalluz_ @Tian_Yuan_Liu @berbe_ld @Magdoll @LaurenMMcIntyr1 @LongtrecEU @CSIC
https://t.co/SjHJDYFvFw

[Liz Tseng @Magdoll]

Non-coding mutations can lead to rare disease too! @PacBio detected de novo mutation of lncRNA CHASERR leading to rare syndromic neurodevelopmental disorder https://t.co/jOoTNC3M9F

[UK Dementia Research Institute @UKDRI]

"I am truly excited to lead our brilliant team of researchers and collaborators in pushing the boundaries of science and unlocking vital understanding."

New UK DRI at Cambridge Director Prof Mina Ryten in @CambridgeIndy ⬇️
https://t.co/yXBag8ROos

[SoniaRuiz @sonigruiz]

@Conesa_Lab Wrong answer, but is it something to do with the colors of the rectangles?😂

[The Neurogenetics Lab UCL ION @IonSynapse]

Dr Andrea Cortese, Research Group Leader @UCLIoN presenting “Optical genome mapping in inherited neurological diseases” at Festival of Genomics & Biodata 2024, session sponsored by @bionano #FOG2024 @FLGenomics @UCLBrainScience @UCL_QS_CNMD