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P. K. Van Kien

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Open access Jul 2026

Unveiling ocular developmental disorders through short-read whole-genome sequencing.

It is demonstrated that short-read WGS significantly improves diagnostic yield in patients with congenital eye malformations, including those previously undiagnosed despite NGS panel testing.

Bertrand Chesneau, Timotéo Cousteix, Abdelhakim Bouazzaoui et al. · 1 citation · ⚡1

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