aphillippy.bsky.social
Finished a human genome @ NHGRI, working on a few hundred more @ Johns Hopkins University 👨💻 Lab: https://genomeinformatics.github.io
👤 Joined on 03 July 2023
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@aphillippy.bsky.socialA telomere-to-telomere map of somatic mutation burden and functional impact in a cancer www.cell.com/cell/fulltex...
Show PostLoL-align is out in @natmethods.nature.com! It aligns protein structures without superposition. More sensitive than TM-align and DALI, producing better alignments 5–20× faster. Now available in Foldseek! 📄 www.nature.com/articles/s41... 💾 github.com/steineggerlab/foldseek 🌐 search.foldseek.com
Show PostAcademics everywhere now contriving to injure themselves so they get some time to do productive things like this…
Show Post“We hope that these complete genomes will close the gap in rare disease diagnostics and give families the answers they need,” says senior author @aphillippy.bsky.social.
Show PostSweden's long-read genomics ecosystem is here!🧬🇸🇪 Our new preprint demonstrates how population-scale sequencing can be combined with clinical diagnostics. Aggregated SNV, SV and TR frequency data based on 576 Swedish individuals now available here: swefreq.nbis.se/dataset/GoS
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