Segunda sesión de Seminarios del Máster en Bioinformática. Impartidos por Celeste Moya e Irene Pérez. Colabora @i2sysbio.es

Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data - Nature Communications Identifying genetic variants using long-read RNA sequencing (lrRNA-seq) is useful but hampered by high error rates and biological complexities. Here, the authors developed Clair3-RNA, a deep-learning ...

Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data - Nature Communications www.nature.com/articles/s41... 🧬🖥️🧪 github.com/HKU-BAL/Clai...

Excited to share that our work on short/long insertions in Type 2 Diabetes has been presented at the JBI2025 - XV Symposium on Bioinformatics!

DOI: 10.13140/RG.2.2.16441.84323

Just published our review “Extrachromosomal Circular DNA and Transposable Elements in Type 2 Diabetes” in Int. J. Mol. Sci. 🧬

We discuss how eccDNA and transposable elements may contribute to T2D and their potential as biomarkers and preventive targets.

🔗 www.mdpi.com/1422-0067/26...

#INCLIVA

Array genotyping of transfusion-relevant blood cell antigens in 6946 ancestrally diverse study participants Key PointsArray genotyping enables extensive blood cell antigen typing, with >99.9% reproducibility across international laboratories.Accurate antigen g

Pleased to share a new paper in Blood: “Array genotyping of transfusion-relevant blood cell antigens in 6,946 ancestrally diverse participants.” Grateful for the chance to contribute and learn from the team. Read: ashpublications.org/blood/articl...

🧬 Excited to share our poster at the European Society of Human Genetics Conference 2025 (#ESHG2025)!

"Optimising the semantic coding of genetic polymorphisms for predictive analysis in type 2 diabetes"

DOI: 10.13140/RG.2.2.25497.12646

📢 HPRC Release 2 is here!

Now with phased genomes from 200+ individuals, a 5x increase from Release 1.

Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️:

humanpangenome.org/hprc-data-re...

🧬 Excited to share our poster at The 3rd International Electronic Conference on Biomedicines:

“Comprehensive Analysis of Genetic and Environmental Factors Influencing Type 2 Diabetes in the Spanish Population with NGS and the SEQENS Algorithm”

DOI: 10.13140/RG.2.2.35970.59846

Now known as one of the most cited "recent" (last 2 years?) papers in Systematic Biology!

The email I received says AE @wrightam.bsky.social is the first author though hahaha. We and the 22 coauthors and ALL of the crabs can all celebrate this much needed good news! 🦀🧪

"Conèixer els màsters" is an informational event of the @uv.es 😀
Representing the Master's in Bioinformatics its director @vicentarnau.bsky.social and PhD student Celeste Moya attended.
Registration for UV master's programs is open until June 13.
Sign up now! @i2sysbio.bsky.social #bioinformatics

New publication of the TBC group @i2sysbio.bsky.social in the magazine biology. @vicentarnau.bsky.social
doi.org/10.3390/biol...
@mdpiopenaccess.bsky.social

Biologist, stop putting UMAP plots in papers!

Blogpost here: simplystatistics.org/posts/2024-1...

¡Ha sido un placer participar en la actividad cultural de #seh2bioinfo como presentadora de la misma! Feliz de ver como crece la comunidad de hispanohablantes de Bioinformática. 💻🦠🧪🧬

#bioinfo #bioinformatics #science

Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project https://www.biorxiv.org/content/10.1101/2024.04.18.590093v1 Structural variants (SVs) contribute significantly to human genetic diversity and disease. Previousl

Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project www.biorxiv.org/content/10.1101/2024.04....

Presentación del libro: Matildes. Les grans oblidades de la història de la ciència El 11 de febrero, a las 17:45, en el aula PB04 de la Facultat de Magisteri, se presentará un libro sobre las Matildes, las grandes olvidadas de la historia de la Ciencia

www.uv.es/uvweb/biolog...
Varios estudiantes del Máster Oficial en Bioinformática de la UV colaboran en esta excelente publicación.

Here is a thread showcasing my GitHub repositories: 1) Friends Don't Let Friends Make Bad Graphs. An opinionated essay on good and bad graphs.

My popular one by a long shot with 6.4k stars and 248 forks. github.com/cxli233/Frie...

Hello World!