Adrián Gómez

I am grateful to the organisers, speakers, and especially to CIBER for making this experience possible. I left Porto with new ideas, tools, and perspectives that will strengthen my research.

Discussions also touched on phenotype-driven variant prioritisation, real-life case workshops, and the growing role of AI in variant interpretation.

We explored essential tools for variant analysis like:
- gnomAD
- UCSC & Ensembl Genome Browsers
- Human Phenotype Ontology (HPO)
- MobiDetails
- IGV

The course covered the full landscape of genomic diagnostics:
→ HGVS nomenclature
→ ACMG/AMP classification (SNVs & CNVs)
→ Splicing & RNA-level interpretation
→ Data sharing in gene variant databases

A few weeks ago I attended the 9th Variant Effect Prediction Training Course (VEPTC 2025) in Porto. Four intense days of learning and collaboration in the ever-evolving field of variant interpretation.

Happy to share our results and an update of the genetic studies in #ILD in this meeting. @labcflores.bsky.social

By now, it would not surprise anyone to understand that there are host genetic variants governing severe infection outcomes.

Want to better understand what interstitial lung diseases are and what do we aim for with the project PRECISION-ILD funded by @isciiisalud.bsky.social involving the participation of many researchers from Spain and abroad? Check the project's webpage: precisionepid.com

I found this conference a very interesting and exciting experience demonstrating how advances in microbial and viral genomics, bioinformatics, data science and sequencing technology are being used to meet the growing needs of public health around the world.

#ABPHM25

Last week I attended and virtually presented my poster entitled: ‘A novel workflow for the sequencing and analysis of RSV amplicon-based whole genomes using short- and long-read technologies’ at the Applied Bioinformatics and Public Health Microbiology 2025 conference.

US environmental agency halts funding for its main science division E-mails reveal the stoppage at the US Environmental Protection Agency, which is encouraging workers to resign ahead of a reorganization.

The Trump administration has blocked funding for research across the US Environmental Protection Agency’s main science division, according to sources inside the agency and internal e-mails seen by Nature.

https://go.nature.com/4mo52oy

GitHub - genomicsITER/RSV Contribute to genomicsITER/RSV development by creating an account on GitHub.

We developed the resource as part of the continuous respiratory virus surveillance efforts in the Canary Islands (github.com/genomicsITER...) & the code is publicly available at: github.com/genomicsITER...

A bench-to-data analysis workflow for respiratory syncytial virus whole-genome sequencing with short and long-read approaches Respiratory syncytial virus (RSV) is a leading cause of acute respiratory illness, especially in children, immunocompromised patients, and the elderly. Genomic surveillance of RSV enables detecting an...

Proud to share my first collaborative preprint! We present a full workflow for RSV whole-genome sequencing from sample processing to lineage classification, adapted for illumina &
@nanoporetech.com . Thanks @LabCflores (X). Looking forward to many more!

www.medrxiv.org/content/10.1...

Variación genética y enfermedad: claves para una medicina personalizada - Hipotesis Variación genética y enfermedad: claves para una medicina personalizada 8 de mayo de 2025 FacebookXWhatsAppCopy k   Hipócrates, considerado el padre de la Medicina Occidental, introdujo ya en el siglo...

Les invito a ver el siguiente artículo de Hipótesis 2.0, en su número 18, donde mis compañeras cuentan algunos de los frentes de investigación que tenemos activos en @LabCflores (X). ¡Espero que les guste!

www.ull.es/portal/hipot...

Delighted to share our new study evaluating the association of rare variants in telomere and non-telomere monogenic adult-onset Pulmonary Fibrosis genes and IPF patient survival where we also intersected their effects with #PRS of IPF.

Ha sido una experiencia enriquecedora y todo un orgullo poder presenciar el encomiable trabajo desarrollado en la Unidad de Investigación del HUNSC, siempre orientado a generar nuevo conocimiento científico con el objetivo último de mejorar la calidad de vida de los pacientes.

Destacaron especialmente las ponencias de los distintos grupos dedicados a la investigación biomédica, abarcando desde enfoques básicos hasta clínicos, entre los que se encuentra nuestro grupo de Variación Genética y Enfermedad.

También se presentaron las diversas líneas de investigación activas en los grupos de Epidemiología, Investigación Cualitativa y la labor de la Unidad de Apoyo Metodológico.

El pasado 27 de marzo asistí a la I Jornada de Puertas Abiertas de la Unidad de Investigación (UI) del Hospital Universitario Nuestra Señora de Candelaria (HUNSC).

Four ways COVID changed virology: lessons from the most sequenced virus of all time After 150,000 articles and 17 million genome sequences, what has science taught us about SARS-Cov-2?

After 150,000 articles and 17 million genome sequences, what has science taught us about SARS-CoV-2?

https://go.nature.com/4iDKrtw