Ilaria Cherchi (@ilariache) Bsky

🎉 Congratulations to Ilaria Cherchi (@ilariache.bsky.social) for securing an EMBO Scientific Exchange Grant!
Ilaria is a visiting PhD student from the Demichelis Lab at the University of Trento, and she is currently exploring the contribution of telomeric dysregulation (1/2)

1 month ago 4 1 1 0

Celebrating the women and the gender-diversity in our lab today, and every day! 🎉

Happy International Day of Women and Girls in Science!
#WomenInScience #WomenInSTEM #IDWGS

2 months ago 2 1 0 0

In light of our results, we support the implementation of the T2T-CHM13 reference for the improvement of sequencing data analyses in the clinical genomic setting.

3 months ago 0 0 0 0

🔑 Key findings:

- Sequence analysis of CpG islands, transcription factor binding sites (TFBS), and ClinVar variants proximity revealed wide-ranging nucleotide variation when comparing T2T-CHM13 with hg19 and hg38

3 months ago 0 0 1 0

🔑 Key findings:

- The T2T-CHM13v2.0 assembly enhances read mapping accuracy and abolishes the reference mapping bias (RMB)

- Reference genome assembly choice impacts the detection of clinically relevant variants , including pathogenic variants in BRCA1 gene

3 months ago 1 0 1 0

We show that the T2T-CHM13 reference genome improves read mapping and reduces bias in human sequence analysis with implications for variant discovery and clinical genomics 🧬 🖥️

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T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants The T2T-CHM13v2.0 reference genome added previously uncharacterized genomic sequences and improved the accuracy of repetitive stretches compared to former human genome assemblies. By comprehensive allelic variation analysis and read mapping statistics from sequencing reads aligned to hg38 and T2T-CHM13 assemblies in samples encompassing different sequencing designs and ethnicity groups, we observed that T2T-CHM13v2.0 assembly significantly reduces the reference mapping bias (RMB) and increases read mapping precision at clinically relevant sites, including BRCA1 pathogenic variants. Further, we report the presence of sequence dissimilarities among reference genomes in the proximity of ClinVar annotated variants, suggesting the need for data re-analysis and potential redesign of probes targeting clinically relevant regions. Overall, these findings support the implementation of T2T-CHM13 reference for the improvement of sequencing data analyses in the clinical genomic setting. ### Competing Interest Statement The authors have declared no competing interest. Fondazione AIRC per la ricerca sul cancro, IT, 22792 Fondazione Cassa Di Risparmio Di Trento E Rovereto, IT Cancer Research UK, https://ror.org/054225q67, A26822 Department of CIBIO – University of Trento

Does changing the reference genome from hg38 to T2T-CHM13 affect mapping over clinically relevant variants?

📄 To find out check our new preprint at doi.org/10.64898/202...

DemichelisLab (@Francesca Demichelis) @UniTrento CIBIO (Università di Trento) @yariciani.bsky.social

3 months ago 1 2 1 0

Chromosomes in Focus: Origins, Genes, and Cancer In the 150 years since chromosomes were first discovered, scientists have studied them in various contexts, from insect cells to artificial systems.

Catch up on the latest chromosome news from The Scientist, including work from our own Titia de Lange! Recent work found that DNA's well-known end replication problem is more complex than we thought, with telomerase providing only part of the solution.

8 months ago 4 1 0 0

Time to modernise the human reference genome. Karen Miga @humanpangenome.bsky.social on how T2T assemblies open new biological discoveries.
Still one genome cannot represent our genetics diversity, No matter how complete. Incredibly exciting for the global community.
#ESHG2025

10 months ago 7 7 0 0

Looking forward to attending #eshg2025 🧬 I will present my poster on the benefits of #T2T reference genome for SNP calling and identification of clinically relevant variants. Let’s meet in Milan!

11 months ago 8 2 0 0

Posts by Ilaria Cherchi