CISLD Genomics Department

Department of Genomics at Clinical Institute of Special Laboratory Diagnostics at University Children's Hospital, UMC Ljubljana

[Jernej Kovac @JerKoNej]

🔬 Iščemo mladega raziskovalca!

Raziskuj epigenetske biomarkerje sladkorne bolezni tipa 1 v vrhunskem genetskem laboratoriju @CISLD_SI, v programsko skupini @TBattelino na @ukclj

Začetek: jesen 2025

Prijave do 20. 6. 2025 👉 jernej.kovac[at]https://t.co/NuP1ZcXR1u

[Urh Groselj @UrhGroselj]

Our new study published in @AJPCardio
Can we better detect insulin resistance and early metabolic complications in children with obesity using a simple 2-point test?
“Enhanced OGTT for early detection of IR & metabolic complications”
📄 https://t.co/mw8AvgkFuK

[CISLD Genomics Department @CISLD_SI]

Vabljeni k sodelovanju!
Slovenski Referenčni Genomski Projekt #srgp

[Jernej Kovac @JerKoNej]

🧬 Slovenski Referenčni Genomski Projekt odpira vrata natančnejši diagnostiki in ciljanemu zdravljenju. Več znanja = boljše terapije!

📢 Leta 2026 bo ponovno zbiranje vzorcev prostovoljcev. Prijavite se že zdaj: info.srgp[at]https://t.co/NuP1ZcXjbW
Več:https://t.co/IyjGo3Krtl

[CISLD Genomics Department @CISLD_SI]

Nova raziskovalna programska skupina prof. dr. Tadeja Avčina in nove raziskovalne priložnost za podoktorske raziskovalce na področju imunologije in redkih bolezni.

[Jernej Kovac @JerKoNej]

🔬 Priložnost za podoktorske raziskovalce! Pridružite se ekipi @CISLD_SI pri raziskovanju redkih imunoloških bolezni. 💡 Napredne tehnike genomike, pretočne citometrije in mednarodni projekti. Pošljite prijavo do 1.1.2025! 📩 [email protected] #znanost #imunologija #raziskave

[CISLD Genomics Department @CISLD_SI]

Our team! 🎉🎉👏🏻👏🏻

[Jernej Kovac @JerKoNej]

Our paper on ability of @nanopore tech to detect low-level heteroplasmy events in mitochondrial DNA is out in @SciReports.
Big shoutout to our lead author, Barbara Slapnik, for her hard work & dedication! And to whole team for invested energy and time!

https://t.co/BrG7wMKHCw

[CISLD Genomics Department @CISLD_SI]

Last week we hosted international workshop on genomics in newborn screening.

#genomics
#newbornscreening
#science
#health
#prevention
#precisionprevention

[Jernej Kovac @JerKoNej]

We hosted a workshop on genomics in newborn screening last week. It took some time to collect all the impressions. It feels great 😀. New friends and new collaborations will grow out of this meeting. Very proud that I was a part of the organisation team.
https://t.co/xkke6qeLPT

[CISLD Genomics Department @CISLD_SI]

Just published paper on LPL deficiency in Slovenia and Pakistan.

[Urh Groselj @UrhGroselj]

Our case series and systematic review on LPL deficiency from Slovenia and Pakistan is just published in @FrontEndocrinol
https://t.co/FYLouJar2m

@DrFouziaSadiq @CISLD_SI

[CISLD Genomics Department @CISLD_SI]

Our research team published an interesting study into the epigenetic modifications in type 1 diabetes. Work done with an innovative technology from @nanopore.

#methylation
#genomics
#nanopore
#longreadsequencing
#science

[Jernej Kovac @JerKoNej]

Thrilled to announce the publication of our research on DNA methylation linked to glycemic control quality! Abnormal patterns emerged in key pathways associated with t1D pathology, even before clinical signs appeared, in individuals with poorly managed T1D https://t.co/7G8y80l1YA

[CISLD Genomics Department @CISLD_SI]

Being part of the GDI project is quite a fulfilling experience. The first 18 months taught us a lot, we had a lot of fun and a multitude of really in depth conversations with experts from all over Europe. https://t.co/fbINy71AoD

[GDI_EUproject @GDI_EUproject]

🎉 @GDI_EUproject is 18 months old!
Read our latest news to find out the project’s highlights in the past few months and the future plans.
➡️ https://t.co/kIvCjS5ffR

[CISLD Genomics Department @CISLD_SI]

Dobrodošli!

[Jernej Kovac @JerKoNej]

🌟 Iščemo bioinformatika! 🧬 Pridružite se nam na Pediatrični kliniki @ukclj in s svojim znanjem pomagajte izboljšati obravnavo najbolj ranljivih! 💡 Razvoj, implementacija in vzdrževanje bioinformatskih cevovodov. 🧬 Podrobnosti: (jernej.kovac[at]https://t.co/NuP1ZcXjbW).#deli

[Jernej Kovac @JerKoNej]

Let's run WGS with GPUs.
#NGS
#Genomics
#RareDisease

https://t.co/1JwAZ2dojr

[Jernej Kovac @JerKoNej]

Za krepitev paliativne oskrbe naših umirajočih lahko donirate z MT5 na 1919. 🙏 #donacija #pomagam #skupaj

[Jernej Kovac @JerKoNej]

Predstavitev dejavnosti Kliničnega inštituta za specialno labiratorijsko diagnostiko Pediatrične klinike @ukclj na področju presejalnega testiranja novorojencev. ☀️☀️V lepem in vročem sončnem dnevu nas najdete na Marcelovi tržnici na Pogačarjevem trgu v Ljubljani. ☀️☀️
@CISLD_SI

[CISLD Genomics Department @CISLD_SI]

A study of #miRNA in Wilms tumor, the most common kidney #cancer in #children, was published today. Led by @Tine_Tes, researchers @ukclj characterized complete #transcriptome involved in the Wilms tumor.

#health
#Pediatrics
#sequencing
#RNA
#DNA
#Science

https://t.co/AExUTsgi7U

[CISLD Genomics Department @CISLD_SI]

We present a patient with PRS-I enzyme deficiency due to a novel pathogenic variant in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. https://t.co/CnjxOlBZuu

[CISLD Genomics Department @CISLD_SI]

The power of IT in genomics! 💻 We're thrilled to showcase path of our GPU computing implementation, turbocharging bioinformatics analysis in human genetics. Because groundbreaking discoveries need groundbreaking tech! 🚀 #Bioinformatics #Genomics #HighPerformanceComputing 🧬💡

[CISLD Genomics Department @CISLD_SI]

Excited to join #ESHG2023! 🧬 We'll be showcasing a slice of our work in #genomics, #transcriptomics, #longreadsequencing, #bioinformatics, and #epigenomics. ESHG2023 is a deep dive into the future of genetic research! 🚀🔬🧪 #ScienceTwitter

[CISLD Genomics Department @CISLD_SI]

Molecular #evolution isn't just history - it's happening in us, right now! 🧬 Excited to share evidence of a heritable retransposition event and the birth of a novel (pseudo)gene in humans. Stay tuned as we unravel the dynamic tapestry of our genome! #MolecularEvolution 🔬🚀