iiinova — where your digital self keeps evolving

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GWAS Catalog @gwascatalog.bsky.social · 03/07/2026

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

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European Society of Human Genetics @eshg.bsky.social · 01/07/2026

🧬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...

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Pilar Cacheiro @pilarcacheiro.bsky.social · 24/06/2026

'We are pushed by technology'. I like a good, simple, irrefutable message. A de Gaetano at the Infrafrontier meeting.

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Dr Jo Ball @drjeball.bsky.social · 22/06/2026

A #Roman mosaic octopus, found in a villa at Villaquejida (Spain) - laid some 1800-1900 years ago, but still looking fabulous today #MosaicMonday #AncientBlueSky

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Biodiversity Pics @biodiversitypix.bsky.social · 22/06/2026

🦴 Die Radiolarien (Rhizopoda radiaria): Berlin: G. Reimer, 1862-1888. [Source]

Historical scientific illustration showing detailed, labeled drawings of Radiolaria fossils from the 19th century. The image includes multiple circular and elongated forms with intricate internal structures, radiating lines, and varied textures in shades of beige, brown, red, and black. Prominent features include fine, spiky projections, clustered spherical elements, and cross-sectional views revealing cellular-like patterns. The illustration highlights five main types: Actissa, Thalassolampe, Thalassopila, and Thalassocolla, showcasing their delicate skeletal frameworks and complex morphology typical of fossilized Radiolaria. The plate is titled "Spumellaria et Nassellaria" and originates from "The Voyage of H.M.S. Challenger."

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Emoji Aquarium @emojiaquarium.bsky.social · 19/06/2026

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Caroline Wright @carolinefwright.bsky.social · 19/06/2026

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...

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European Society of Human Genetics @eshg.bsky.social · 18/06/2026

🗳️ 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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 16/06/2026

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

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European Journal of Human Genetics @ejhg-journal.bsky.social · 16/06/2026

🚨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/...

nature.com

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 ...

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

T Wright at the social media committee session, discussing how LinkedIn can be useful to researchers. Humour is very much present. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

R Fluri. LDB1 de novo variants are associated with ND phenotypes: pathomechanisms differ depending on variant location. Amazing and beautifully presented work. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

K Bhosale. RFL variants are associated with a NDD. Beautiful work showing concordant epigenomic and transcriptomic dysregulation. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

S Domcke. Barcoded monoclonal embryoid bodies allow quantification of the consequences of TF perturbations and inter-individual heterogeneity. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

R Rademakers: New repeat expansions in FTLD and the evolving view: - Mendelian inheritance - Polygenic model (familial + sporadic) - Two-hit model (sporadic) #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Chiara Auwerx on the genetic architecture of autism. Beautiful talk. Reporting novel rare variants associations and pleiotropy with other neuropsychistric disorders. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Me love a good acronym🍪. Fantastic talk by Emma Lundberg on the proteome. #eshg2026

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Zornitza Stark @zornitza.bsky.social · 13/06/2026

👏👏👏 fantastic to see @nickywhiffin.bsky.social win the Leena Peltonen award at #eshg2026 @eshg.bsky.social 👏👏👏

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

N Whiffin (Leena Peltonen awardee): success in academia often includes a healthy dose of luck. #eshg2016

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

S. Cannon: Characterising downstream translation initiation as a molecular rescue mechanism for start-loss variants: identified key predective features identified and developed classification workflow. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

H McConkey on the EpiSign-CAN study. Looking beyond the genetic sequence to the epigenome. #eshg2026

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Agnes Caruso @agnescaruso.bsky.social · 13/06/2026

This study is now being presented at #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

R. Luknarova on Transcriptome analysis to improve rare disease diagnosis: - It helps resolve complex variants - Directly suggests causal gene - 8% diagnostic rate in Solve-RD Consortium #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Now T. de Bitter on First-tier use of long-read sequencing for germline diagnosis of rare diseases. www.nejm.org/doi/full/10.... #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

At the C01 session: New tools for diagnosis. L.S. Menig-Benzing on disease-causing mobile elements. #eshg2026

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European Society of Human Genetics @eshg.bsky.social · 12/06/2026

We’ve updated our starter package with interesting accounts to follow. Have a look at it: go.bsky.app/RsMKmCE Let’s build the ESHG community together!

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European Society of Human Genetics @eshg.bsky.social · 03/06/2026

📱 The #ESHG2026 App is now available for iOS & Android! Browse sessions, posters, abstracts & maps, build your personal schedule, vote & ask questions during sessions, and stay updated throughout the Congress. 👉 2026.eshg.org/myconference... #ESHG2026 #Genetics #Genomics #HumanGenetics

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Biodiversity Pics @biodiversitypix.bsky.social · 12/05/2026

🐠 Poissons, ecrevisses et crabes, de diverses couleurs et figures extraordinaires, . A Amsterdam, Chez Reinier & Josué Ottens, 1754.. [Source]

Historical illustration depicting eight distinct fish species, including one labeled "Ekor-Kouning," resembling an angelfish with a beige body, black diagonal stripe, and purple tail and dorsal fin. Other fish include a spiky, round "Troutoen" pufferfish, a red and beige spotted elongated fish "Baard Mannetje," a black and white striped fish "Douwing Formosa," and a multicolored, patterned fish with a long snout "Idombabi." Each fish is carefully detailed with vibrant colors and varying shapes, accompanied by handwritten labels and numbers. The artwork originates from 1754 Amsterdam, showcasing diverse marine life with focus on unusual colors and forms.

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Lake Michigan! Live! @lake-michigan.live · 27/02/2026

Current* conditions near Michigan City, IN:

Western view of Washington Park Beach and the inlet to Michigan City Harbor in Michigan City with Lake Michigan beyond. // Image captured at: 2026-02-27 22:36:18 UTC (about 1 min. prior to this post) // Image sourced from: youtube.com/@AccessLaPorteCountyMedia // Current Temp in Michigan City: 65 F | 18 C // Precip: broken clouds // Wind: SW at 11 mph | 17 kph // Humidity: 33%

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Janet Hill @saskajanet.bsky.social · 28/02/2026

The Hairy Woodpecker content you didn’t know you needed #birds

Close-up of black and white woodpecker with long sharp beak, gripping a smooth barked tree trunk in front of a big hole he has excavated.

Wider view this time with his head tilted back so the hole is obvious.

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ka92 @ka92.bsky.social · 28/02/2026

壁紙

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European Society of Human Genetics @eshg.bsky.social · 25/02/2026

📢 New study presents DeepRare, an agentic LLM-based system for rare disease prioritization. 🧬 It generates ranked diagnostic hypotheses from multimodal patient data with evidence-based reasoning, outperforming other approaches in diagnostic accuracy. www.nature.com/articles/s41...

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Carl T. Bergstrom @carlbergstrom.com · 17/02/2026

1. I’m quite happy with this popular piece that Lee Dugatkin and I wrote recently. For the next two weeks it’s free to read on the American Scientist website.

americanscientist.org

Humbled by Evolution

Understanding the history and diversity of life inspires awe and wonder.

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