A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

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Figure 3.
Figure 3.

Performance metrics for adaptive sequencing in a targeted panel of RE loci. (A) Mean read length in target regions significantly exceeds that of off-target regions. (B) Sequencing depth in on- versus off-target regions. (C) Genome-wide enrichment of on- versus off-target regions in individual experiments. (D) Number of reads aligning to each of the targeted CA repeat loci. (E) Number of reads aligning to each targeted clinically significant non-CA locus.

This Article

  1. Published in Advance February 27, 2025, doi: 10.1101/gr.279634.124 Genome Res. 35: 769-785

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