Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

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Figure 2.
Figure 2.

Visualization of the TUBA1A de novo missense variant in P0185637 using IGV, and a pedigree of the family. The variant had earlier been described as a cause of lissencephaly. Healthy family members do not carry the variant. Sequenced individuals are marked with an asterisk (*) in the pedigrees.

This Article

  1. Published in Advance March 26, 2025, doi: 10.1101/gr.279414.124 Genome Res. 35: 755-768

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