Medhat Mahmoud
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medhat.bsky.social
Medhat Mahmoud
@medhat.bsky.social
Postdoc, HGSC, Baylor college of medicine. Interests: Bioinformatics | SVs | SNVs | comparative genomics | data science
5/ Big thanks to @sedlazeck.bsky.social and Daniel Agustinho for their support and insight on this work!

Would love to hear your thoughts, feedback, or what tools you are using in your long-read work. 👇

#Genomics #Bioinformatics #PacBio #Nanopore #VariantCalling #GenomeAssembly #T2T #Epigenetics
May 5, 2025 at 2:10 PM
4/ We also dig into:

⚠️ Key challenges still facing the field
🔬 Areas where accuracy or scalability can improve
🚀 Where we think long-read tech is heading next
May 5, 2025 at 2:10 PM
3/ In this review, we cover:

🧩 Reference-based + de novo assembly workflows
🧬 Structural + small variant calling
🧠 Epigenetic insights (methylation, etc.)
🛠️ Bioinformatics tools and pipelines that power it all
May 5, 2025 at 2:09 PM
2/ Over the past decade, long-read sequencing (e.g., ONT, PacBio) has reshaped how we explore the genome, enabling breakthroughs like:

✅ Telomere-to-telomere assembly
✅ Structural variant discovery
✅ Epigenetic profiling
✅ Complex repeat resolution
May 5, 2025 at 2:09 PM
Thank you!!
November 13, 2024 at 2:13 PM
Thank you for this initiative, please include me.
October 23, 2024 at 2:51 PM