Elisabet Munté Roca

Genètica i Bioinformàtica - PhD student
Molins

[Elisabet Munté Roca @elisabetmunte]

Happy to share my first article as first author on @OxfordJournals about semi-automating variant classification following @TheACMG and gene-specific guidelines @ClinGenResource

https://t.co/EcI6I0JZBF

[IDIBELL @idibell_cat]

Un equip de bioinformàtiques👩‍💻impulsa millores per a la prevenció i tractament del càncer hereditari

Les dades de l'estudi, en accés obert, proporcionen una guia fiable📑per escollir les millors eines bioinformàtiques per a la detecció de CNVs

👉https://t.co/aQxkBcBWhd

[Elisabet Munté Roca @elisabetmunte]

@PaulaRofes (3) This approach has improved diagnostic yield by 0.6%.

We look forward to publishing our work soon and sharing the code with the community. Many thanks to the AEGH for making this possible!
#JornadaCáncerAEGH

[Elisabet Munté Roca @elisabetmunte]

(1) Last Wednesday, I had the opportunity to present one of my thesis projects at the XVI Jornada de Actualización en Genética Humana @AEGHgenetica in Barcelona.

[Elisabet Munté Roca @elisabetmunte]

(2)
Together with Dr. @PaulaRofes, we developed a pipeline to prioritize structural variants detected by GRIDSS that are often missed by routine pipelines, including intermediate-sized variants, balanced variants, and transposable element insertions.

[Clara Prats @prats_clara]

Sobre la situació dels doctorandxs al nostre país... 👇👇👇

[Marta Pineda @MartaPinedaRiu]

Molt contenta avui de col.laborar en el projecte del Programa de Càncer Hereditari per millorar la prevenció del càncer en la població gitana. @ICO_oncologia @idibell_cat

[Marta Pineda @MartaPinedaRiu]

📢We are hiring!! We are looking for predoctoral researchers interested in hereditary cancer. Only 15 days left to apply! Join us! @idibell_cat @ICO_oncologia https://t.co/IILQvNHmvD
https://t.co/wDmGCRVBKb

[Barbara Rivera @BRivera_Polo]

I am SUPER thrilled to announce that we have launched the Network for Rare Tumors of the Ovary website!!! A community meeting point for Patients, Researchers, Advocates and Clinicians interested in Rare Ovarian Tumors like SCCOHT and SCSTs. The NRTO explained in a thread:

[Marta Pineda @MartaPinedaRiu]

#InSiGHT2024 in Barcelona has just finished. We have had really good science and fun!
Very proud of @FatimaMarinn and @elisabetmunte presentations on CMMRD in Spain and open-source PMS2 pipeline.
See you all in Singapore!
@idibell_cat @ICO_oncologia

[Mariona Terradas @marionaterradas]

After 2nd @insightmeeting day, some individuals of the Hereditary Cancer Group at @idibell_cat @ICO_oncologia enjoyed the evening at the terrace of a BCN hotspot, La Casa de les Punxes
#TeamBuilding

[Mariona Terradas @marionaterradas]

And finally, two talks from the house:
1) @lvalleresearch on recessive effect of POLD1
2) @elisabetmunte on a bioinformatic pipeline to improve PMS2 genetic testing

[Laura Valle @LValleResearch]

Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data https://t.co/NUFXdoXeSO

By @elisabetmunte @MartaPinedaRiu @conxi_lazaro from @ICO_oncologia @idibell_cat

[Pol Ibáñez Marcet @bruges33]

A Sant Quirze del Valles, poble de 19.000 hab. o van tenir clar fa dos anys (enllestit en 2 mesos!). Per les necessitats actuals de Molins de Rei cal un nou PAV3 o potser amb un espai semblant a Sant Quirze en tindríem prou?

[Barbara Rivera @BRivera_Polo]

Are you a postdoc interested in genetics and genomics of hereditary tumors? We are seeking candidates to apply to the #AECCTalent MSCA fellowship at the @IDIBELL have a look at our info and get in touch!

[Laura Valle @LValleResearch]

Check out the new website of our Hereditary Cancer Group at @idibell_cat
https://t.co/K7qPVoq5NZ

and in this section https://t.co/BPMlIXSsf3
details of my team (Colorectal Cancer Predisposition): members, projects, publications, and more!

[Barbara Rivera @BRivera_Polo]

The Challenges of Hereditary Cancer screening and prevention strategies in Chile. Today Ricardo Ramires (Colleague from our PhD studies at @CNIOStopCancer ) is visiting @idibell_cat to explain their efforts to make personalized prevention a reality in understudied populations.

[Barbara Rivera @BRivera_Polo]

Si quieres conocer el proyecto VUSCan, esta entrevista de Conxi Lázaro (coordinadora del proyecto) lo resumen perfectamente. @idibell_cat @CNIOStopCancer. Investigación para promover la implementación de la genómica clínica en la sanidad pública 😍.

[Elisabet Munté Roca @elisabetmunte]

Excited to be attending the #ESHG2023 conference in Glasgow.

[Laurent Ladépêche, PhD @LauLadep]

@elisabetmunte nos cuenta como funciona la herencia de los datos genéticos, y en particular en el caso del #cancer
#pint23 #Pint23ES #PINT23BCN

[Laurent Ladépêche, PhD @LauLadep]

Cerrando sesión del primer día en #PINT23BCN ! Muchas gracias a los ponentes @elisabetmunte y @JosepDeLaPuente y al @CCCanDeu para acogernos!
Nos vemos mañana por más @pintofscienceES
#Pint23ES #pint23