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Very excited to share our new review on the complexity of SMA genetics, now online @cp-trendsgenetics.bsky.social! General interest in complex genetics? Want to know more about long-read sequencing? Segmental duplications? ✅✅✅ Have a look! www.cell.com/trends/genet...
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Long-read sequencing, paralog-aware variant calling, and telomere-to-telomere (T2T) human genome assemblies now enable the resolution of copy-, haplotype-, and nucleotide-level complexities in segment...
The SMN locus in the T2T era: Structure, gene conversion, and clinical implications
www.cell.com
Gigabase-scale deletion scanning of the human genome
Fantastic talk by @gpreising.bsky.social! #PEQG26
Amazing talks and work at #PEQG this week! Stop by my poster today, number 249, to discuss comparative transcriptomics of salivary glands between mouse and humans. I have some cool thoughts to share about the evolution of gene expression! 🐁🧬💧