Excited to support ESHG-Young Committee activities and very happy to be part of this amazing team π
20.02.2026 17:46
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Excited to support ESHG-Young Committee activities and very happy to be part of this amazing team π
New epigene unlockedπ§¬
Very pleased to share our latest paper published in Cell:
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell www.cell.com/cell/fulltex...
@cellpress.bsky.social, @cp-cell.bsky.social, @ruizhideng.bsky.social #enhancer
here is a thread about our findings:
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 ππ§¬
#MDC25
A feature in Nature examines the argument among researchers about if βnovelβ AI-generated works should be considered plagiarism. #Academicsky π§ͺ
bioRxiv has a dedicated section for negative results.
Use it.
Share negative results.
Your colleagues will appreciate it.
π’ Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST!
𧬠Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures"
π» Registration is free but required: wma.eventsair.com/eshg-webinar...
π© Past registrants will receive the Zoom link automatically.
New ENCODE4 long-read RNA-seq transcripts track forΒ 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...
π Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! π§¬π
Out now in Nature Reviews Genetics: www.nature.com/articles/s41...
#3D-Genome #StructuralVariants #uksh
π’ Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST!
𧬠Speaker: Kaitlin Samocha on variant interpretation using population data
π» Registration is free but mandatory: wma.eventsair.com/eshg-webinar...
π© Past registrants will receive the Zoom link automatically.
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...
I loved it once again! Thanks for everyone making #eshg2025 happen!
#eshg2025 β> #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. 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 itβs a wrap! We hope you enjoyed this yearβs #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 DΕΎinovic (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 LuknΓ‘rovΓ‘, 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 OberlΓ© 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
β’ Nesibe Bulut Turkey to Vienna, Austria
β’ Tea MladeniΔ Croatia to Jena, Germany
β’ Melda ErdoΔdu Turkey to LinkΓΆping, Sweden
β’ Lein Dofash Australia to Exeter, UK
β’ Daniela Oliveira Portugal to Stockholm, Sweden
#ESHG2025
ESHG Observership scheme awardees 2025
β’ Purvi Majethia India to Manchester, UK
β’ Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden
β’ Juliana Miranda Cerqueira Finland to Cambridge, UK
β’ Vanessa Sousa Portugal to Leuven, Belgium
β’ SΓlvia 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 βC32 Beyond common variants β pop sequencing and CNVsβ delivered outstanding methods. From haplotype-informed analyses, meta-analyses to genetic diverstyβpushing 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 β¬οΈ diagnoses 10-15% (many refs)
Can't wait!
The band are warming up for tonight! πΈπΆ #ESHG2025
@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky
#eshg2025