Jorge Batista da Rocha
spider-m4n.bsky.social
Jorge Batista da Rocha
@spider-m4n.bsky.social
Genomics and Bioinformatics 🧬
Reposted by Jorge Batista da Rocha
Meet @spider-m4n.bsky.social (Jorge Batista da Rocha) in our #TEAMsembl series, where he reflects on his first year at #Ensembl, training on the new browser, AI in learning, and… two dogs who can sniff out cheese 🧀 🐾

Read more at www.ensembl.info/2025/09/08/g...
September 8, 2025 at 1:04 PM
Reposted by Jorge Batista da Rocha
Excited to share our @varianteffect.bsky.social CVI workstream preprint! Herein, we discuss important considerations for integration of multiplex functional data to generate a single score set and how this is likely to impact variant classification now and in the future

arxiv.org/abs/2503.18810
Combining multiplexed functional data to improve variant classification
With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of variant effect (MAVE...
arxiv.org
March 25, 2025 at 3:46 PM
Reposted by Jorge Batista da Rocha
✨Day 3 highlights✨
On this day, we supplied participants with the tools and skills to teach and deliver their own #Ensembl workshops 🧑‍🏫 Our Ensembl Train the Trainer workshop is an effective capacity-building course and a great way to reach the wider research community 🥳
November 28, 2024 at 5:24 AM