Teodora Barbarii
@teodorabarbarii.bsky.social
Medical geneticist studying rare neurodevelopmental and neurogenetic disorders
Reposted by Teodora Barbarii
A feature in Nature examines the argument among researchers about if ‘novel’ AI-generated works should be considered plagiarism. #Academicsky 🧪
What counts as plagiarism? AI-generated papers pose new risks
Researchers argue over whether ‘novel’ AI-generated works use others’ ideas without credit.
go.nature.com
August 25, 2025 at 7:41 PM
A feature in Nature examines the argument among researchers about if ‘novel’ AI-generated works should be considered plagiarism. #Academicsky 🧪
Reposted by Teodora Barbarii
bioRxiv has a dedicated section for negative results.
Use it.
Share negative results.
Your colleagues will appreciate it.
Use it.
Share negative results.
Your colleagues will appreciate it.
July 24, 2025 at 10:03 PM
bioRxiv has a dedicated section for negative results.
Use it.
Share negative results.
Your colleagues will appreciate it.
Use it.
Share negative results.
Your colleagues will appreciate it.
Reposted by Teodora Barbarii
📢 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.
🧬 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.
July 17, 2025 at 10:01 AM
📢 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.
🧬 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.
Reposted by Teodora Barbarii
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...
Read more: genome.ucsc.edu/gold...
July 16, 2025 at 6:27 PM
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...
Read more: genome.ucsc.edu/gold...
Reposted by Teodora Barbarii
🚀 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
Out now in Nature Reviews Genetics: www.nature.com/articles/s41...
#3D-Genome #StructuralVariants #uksh
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 ...
www.nature.com
July 7, 2025 at 11:12 AM
🚀 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
Out now in Nature Reviews Genetics: www.nature.com/articles/s41...
#3D-Genome #StructuralVariants #uksh
Reposted by Teodora Barbarii
📢 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.
🧬 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.
June 16, 2025 at 3:42 PM
📢 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.
🧬 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.
Reposted by Teodora Barbarii
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...
#snRNAs
www.nature.com/articles/s41...
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.
www.nature.com
June 2, 2025 at 11:46 AM
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...
#snRNAs
www.nature.com/articles/s41...
Reposted by Teodora Barbarii
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...
#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...
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...
docs.google.com
May 29, 2025 at 12:13 PM
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...
#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...
Reposted by Teodora Barbarii
Reposted by Teodora Barbarii
#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!
May 27, 2025 at 2:04 PM
#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!
Reposted by Teodora Barbarii
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
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
May 27, 2025 at 12:58 PM
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
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
Reposted by Teodora Barbarii
#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)
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
May 27, 2025 at 1:05 PM
#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)
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
Reposted by Teodora Barbarii
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"
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
May 27, 2025 at 1:05 PM
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"
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
Reposted by Teodora Barbarii
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
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
May 27, 2025 at 1:06 PM
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
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
Reposted by Teodora Barbarii
#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"
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"
May 27, 2025 at 1:07 PM
#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"
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"
Reposted by Teodora Barbarii
#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)"
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)"
May 27, 2025 at 1:08 PM
#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)"
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)"
Reposted by Teodora Barbarii
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
• 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
May 27, 2025 at 1:14 PM
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
• 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
Reposted by Teodora Barbarii
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
• 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
May 27, 2025 at 1:16 PM
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
• 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
Reposted by Teodora Barbarii
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.
@ESHG2025
@ESHG2025
May 27, 2025 at 9:55 AM
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.
@ESHG2025
@ESHG2025
Reposted by Teodora Barbarii
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
May 27, 2025 at 10:14 AM
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
Reposted by Teodora Barbarii
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)
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)
May 27, 2025 at 8:05 AM
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)
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)
@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky
#eshg2025
#eshg2025
May 26, 2025 at 12:49 PM
@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky
#eshg2025
#eshg2025