🧬 Explore the latest from Bioinformatics Advances: "Benchmarking of variant pathogenicity prediction methods using a population genetics approach"    Full article available: https://doi.org/10.1093/bioadv/vbaf227 Authors include: @egiannoulatou.bsky.social

🧰 Now published in Bioinformatics Advances: "Atlantool: A command line tool to retrieve DNA and RNA sequencing reads from BAM files by the read identifier"    Read the full paper here: https://doi.org/10.1093/bioadv/vbaf226  Authors include: @nibor.org, @egiannoulatou.bsky.social

🚨 Call for Abstracts: GeneMappers 2026 🚨 🧬 Event: GeneMappers 2026 📍 Location: Q Station, Manly 📅 Dates: 9-11 March 2026 📢 Deadline for Abstract Submissions: 7 November 2025 🔗 Submit your abstract: genemappersconference.org/submissions

PaulKornerSeminar speaker ‪@stevemonger.bsky.social: "SAVViDB revealed major problems with the leading splice variant prediction algorithms, and we implemented solutions" @egiannoulatou.bsky.social

#PaulKornerSeminar speaker ‪@stevemonger.bsky.social: "SAVViDB integrates the most important resources for diagnosing a pathogenic splice-altering genetic variant" @egiannoulatou.bsky.social