Bioinformatics & Biostatistics / Developing POSTRE http://github.com/vicsanga/Postre to improve human genetic diagnostics / Postdoc at @radaiglesiaslab.bsky.socialhttps://bsky.app/profile/sanchezgaya.bsky.socialhttps://bsky.app/profile/sanchezgaya.bsky.social/post/3luq263nnn22yGlad to see this work finally out🥳. It has been a real pleasure to be a character on this play 🎭. An excellent work produced by @radaiglesiaslab.bsky.social with @mariamafau.bsky.social as the director & main character (alongside her inseparable friend ZIC2🧠). Take a look at the full plot! 👁️👇🍿 [contains quote post or other embedded content]24 Jul 2025 17:19 +0000at://did:plc:mlqqbmxispq4ckbc2y2d6loi/app.bsky.feed.post/3luq263nnn22yhttps://bsky.app/profile/sanchezgaya.bsky.social/post/3ltndwphmtk27🥳 Happy to share the results of an ongoing work in which we are applying POSTRE (our tool for SV interpretation https://github.com/vicsanga/Postre) to better comprehend the cause of X-LAG tumors, a pituitary disorder responsible for an overgrowth condition 🧬. Preprint: https://www.medrxiv.org/content/10.1101/2025.06.27.25329768v1 1/310 Jul 2025 22:11 +0000at://did:plc:mlqqbmxispq4ckbc2y2d6loi/app.bsky.feed.post/3ltndwphmtk27https://bsky.app/profile/sanchezgaya.bsky.social/post/3lpunfqkshc2hReady and excited to start with #ESHG2025. If you want to hear about how developmental genes can contribute to the insulation of their own TADs, and the consequences for SV interpretation, find me on P22.020.A poster on Sunday 13:00-14:00. Special thanks to the best host @mattetrovato.bsky.social ❤️23 May 2025 22:08 +0000at://did:plc:mlqqbmxispq4ckbc2y2d6loi/app.bsky.feed.post/3lpunfqkshc2hhttps://bsky.app/profile/sanchezgaya.bsky.social/post/3lp73m227fs2eYou can not miss this one! 👇👇 [contains quote post or other embedded content]15 May 2025 08:24 +0000at://did:plc:mlqqbmxispq4ckbc2y2d6loi/app.bsky.feed.post/3lp73m227fs2ehttps://bsky.app/profile/sanchezgaya.bsky.social/post/3lksazfiuxc2hIt was great to participate at the #ComputationalBiology & #Bioinformatics CSIC connection event last week in Madrid, @bcbhubcsic.bsky.social . I could talk about POSTRE, our solution for interpreting structural variants https://github.com/vicsanga/Postre, and discover great people & projects.20 Mar 2025 08:15 +0000at://did:plc:mlqqbmxispq4ckbc2y2d6loi/app.bsky.feed.post/3lksazfiuxc2h