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 1.
Figure 1.

Overview of the study and investigations performed. (SCA) spinocerebellar ataxia, (EH5) ExpansionHunter5, (RE) repeat expansion, (LP) likely pathogenic, (P) pathogenic, (VUS) variant of uncertain significance.

This Article

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

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