Autor: Demi Gommers, Maria M. Zwartkruis, W. Ludo van der Pol, Ewout J.N. Groen, Gijs W. van Haaften
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The SMN locus in the T2T era: Structure, gene conversion, and clinical implications
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 segmentally duplicated loci, which were previously inaccess…