Pilar Cacheiro
@pilarcacheiro.bsky.social
Computational biologist. Genetics of Rare Diseases, Essential Genes, Statistics, R. Honesty matters.
The GWAS Catalog now has an MCP server. Natural language queries over associations, studies, and traits: live from the Catalog. Works with any MCP-compatible client. 🧑💻 Most significant type 2 diabetes association? 🤖 TCF7L2 rs7903146, p = 3×10⁻¹³¹⁵ www.ebi.ac.uk/gwas/mcp
🧬New Perspective explores near-perfect genome sequencing (NPGS): convergence of long-read sequencing, diploid assembly, pangenome references and AI-driven interpretation. A step toward a one-test paradigm that may reshape genetic diagnostics. Read more: www.nature.com/articles/s41...
'We are pushed by technology'. I like a good, simple, irrefutable message. A de Gaetano at the Infrafrontier meeting.
A #Roman mosaic octopus, found in a villa at Villaquejida (Spain) - laid some 1800-1900 years ago, but still looking fabulous today #MosaicMonday #AncientBlueSky
What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...
If the genome is not a blueprint, what is it? My attempt to unravel this particularly knotty question, in @quantamagazine.bsky.social www.quantamagazine.org/why-the-huma...
Why the Human Genome’s Tangled Physicality May Confound AI | Quanta Magazine
Our genetic heritage is not a blueprint or an algorithm, as many biologists have imagined, but something else entirely.
quantamagazine.org
🗳️ It's time to vote! The #eshg2026 Photo Competition finalists have been selected. While there were no entries for Best Virtual Setup, we have some great contenders for: 📸 Best Selfie 😂 Funniest Picture 👉 Vote here: forms.gle/WVNYz4rXChGr... ⏰ Voting closes Monday, 22 June
W Oliveros Diez: The Developmental Genotype-Tissue Expression (dGTex) project pilot data. Importantly many of these genes are downregulated over time so largely missed in adult cohorts. Excited abut this new dataset. #eshg2026
🚨Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshg.bsky.social 🔹What should we screen for and report? 🔹What about uncertainty and harms? 🔹How can we deliver equitably and at scale? #Genomics #Screening #NewbornScreening 🔗 www.nature.com/collections/...
DNA in public health screening programmes
The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...
nature.com
E McDonagh: Understanding rare disease with digital twins. The audience is divided when it comes to the greatest challenge for rare disease diagnosis (I voted for B). #eshg2026
F Casale: AI for health data and genomics. A cross-scale view of human genetics: from imaging to rare variant tests to patient representations. Mendelian genes are at the heart of it. #eshg2026
T Wright at the social media committee session, discussing how LinkedIn can be useful to researchers. Humour is very much present. #eshg2026
J A Tenorio. Clinical implementation and systematic discovery of DNA methylation episignatures for the diagnosis of rare disorders. Pleased to see a novel visualisation framework: the Madrid-Plot. #eshg2026
L Snijders Blok. A pathogenic CCG repeat expansions in CHD3 causes Snijders Blok-Campeau syndrome via epigenetic silencing. Fantastic work and presentation. The work suggests a potentially unrecognised cause of NDD. Excited about the potential of lrGS. #eshg2026
R Fluri. LDB1 de novo variants are associated with ND phenotypes: pathomechanisms differ depending on variant location. Amazing and beautifully presented work. #eshg2026
K Bhosale. RFL variants are associated with a NDD. Beautiful work showing concordant epigenomic and transcriptomic dysregulation. #eshg2026
D J Adams: Saturation genome editing as a precision tool for variant interpretation in hereditary cancer. - Goal: solve all VUS in 114 csncer driver genes. - It needs to be extremely precise for clinical decision making Another elegant presentation in one of my favourite sessions so far. #eshg2026
C Trapnell. Beautiful presentation on zebrabish embryo at single-cell resolution. SEASCAPE: Seahub single cell atlas of perturbed embryos "better than an answer- I have tremendous amount of data" #eshg2026
S Domcke. Barcoded monoclonal embryoid bodies allow quantification of the consequences of TF perturbations and inter-individual heterogeneity. #eshg2026
J Veltman. De novo mutations in male infertility. - Monogenic forms of male infertility are largely underexplored and underused in diagnosis - Cohort of 303 patient-parent trios - De novo mutations found in recurrent genes - Enrichment of spliceosome-related genes in pathway analysis #eshg2026
S Zuchner. Genome-wide discovery of novel repeat expansion disorders. - Bottle necks to discover more repeat expansion disorders - Pue length variability index as a population measure of STR instability #eshg2026
A Tucci: Prevalence of repeat expansion disorders. - Mutation freq ≠ disease freq: disease prevalence model using carrier freq - Pathogenic repeat expansions more freq in genomic databases than expected from clinical prevalence - Two main factors: under ascertainment+incomplete penetrance #eshg2026
R Rademakers: New repeat expansions in FTLD and the evolving view: - Mendelian inheritance - Polygenic model (familial + sporadic) - Two-hit model (sporadic) #eshg2026
C Wright: How much variation is present in the average human genome? - around 2-3 P/LP variants in monogenic disease associated genes (AR + AD) - around 180 VUS in monogenic disease associated genes (AD + AR) - 1 de novo variant #eshg2026
