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.
· European Journal of Human Ge... · 1 citation
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