Teodora Barbarii

20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft-imrare.bsky.social clinical director Prof Banka

Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬

#MDC25

What counts as plagiarism? AI-generated papers pose new risks Researchers argue over whether ‘novel’ AI-generated works use others’ ideas without credit.

A feature in Nature examines the argument among researchers about if ‘novel’ AI-generated works should be considered plagiarism. #Academicsky 🧪

bioRxiv has a dedicated section for negative results.

Use it.

Share negative results.
Your colleagues will appreciate it.

📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST!
🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures"
💻 Registration is free but required: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

New ENCODE4 long-read RNA-seq transcripts track for hg38 and mm10. Triplets (e.g. [1,1,3]) indicate start site, exon combination, and stop site for each transcript. Enrichment scores show how these change across tissue and cell line samples.

Read more: genome.ucsc.edu/gold...

Structural variants in the 3D genome as drivers of disease - Nature Reviews Genetics Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical consequences of position effects ...

🚀 Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! 🧬🔀
Out now in Nature Reviews Genetics: www.nature.com/articles/s41...
#3D-Genome #StructuralVariants #uksh

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST!
🧬 Speaker: Kaitlin Samocha on variant interpretation using population data
💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.

New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases.
#snRNAs

www.nature.com/articles/s41...

ESHG suggestions from participants ESHG Feedback & suggestions Please add bullet points with suggestions for future ESHG conferences; think new/trending topics; speakers (amazing science and amazing presenters); formats; other options...

I loved it once again! Thanks for everyone making #eshg2025 happen!

#eshg2025 —> #eshg2026
Any suggestions for improvement ; ideas for topics and speakers?
Await the formal survey by @eshg.bsky.social but you can also let me know personally:

docs.google.com/document/d/1...

ModelMatcher allows to find scientists with expertise in a gene, pathway etc that can help to provide additional evidence. #eshg2025

Oxford Nanopore Tech Update LC2025 highlights My highlights from the LC2025 announcements

Oxford Nanopore Tech Update LC2025. My full analysis of what this means for NGS and Multi-Omics, including the new Proteomics PoC. open.substack.com/pub/albertvi...

Solvathons are a large team efforts to solve rare disease cases. #eshg2025

#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!

GertJan van Ommen Citation Awards:

1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing

#ESHG2025

#ESHG2025 Poster Prize: Honorary Mentions:
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)

Best Poster in Clinical Research

Rebeka Luknárová, Munich, Germany

P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"

ESHG2025# Early Career awards:
For outstanding science presented at the conference

- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain

#ESHG2025 Isabelle Oberlé Award:
Best presentation by an ECR on research concerning the genetics of intellectual disability.

Natalie B. Tan, Parkville, Australia

"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"

#ESHG2025 Mia Neri Award
for best presentation in cancer research.

Jingzhan Lu,Exeter, United Kingdom

"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden

#ESHG2025

ESHG Observership scheme awardees 2025
• Purvi Majethia India to Manchester, UK
• Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden
• Juliana Miranda Cerqueira Finland to Cambridge, UK
• Vanessa Sousa Portugal to Leuven, Belgium
• Sílvia Pires Portugal to Jena, Germany

#ESHG2025

Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.

@ESHG2025

Wrapping up the last concurrent session at #eshg2025! At the Gold Plenary “C32 Beyond common variants – pop sequencing and CNVs” delivered outstanding methods. From haplotype-informed analyses, meta-analyses to genetic diversty—pushing the frontier in decoding rare variants and complex traits. #gwas

Vicente Yepez #ESHG2025

Rare Disease multi-OMICs Solvathons - a disease solving hackathon
- make sure you have consent to share

Integrated multi-omics in parallel is best

DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)

Can't wait!

The band are warming up for tonight! 🎸🎶 #ESHG2025

@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky
#eshg2025

Come to our SM workshop at Sequencing Square #eshgh2025!

@jamesfasham.bsky.social @eshg.bsky.social @eshgyoung.bsky.social

Multiomics approaches enabled identification of a rare CCG repeat expansion that leads to hypermethylation and silencing of BCLAF3 in undiagnosed patients with NDD #eshg2025
-Methylation array: DMRs identif
-srWGS: STR identif
-RNAseq: gene silencing
-LR ONT: validation of methylation+expansion

Proteomics using proximity extension assays on the 100kGP cohort increased diagnostic yield (VUS reclassification) for rare disorders and prioritized genes for targeted WGS reanalysis #eshg2025