Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases
Jordi Maggi, Samuel Koller, Luzy Bähr, Silke Feil, Fatma Kivrak Pfiffner, James V. M. Hanson, Alessandro Maspoli, Christina Gerth‐Kahlert, Wolfgang Berger
This study develops a long-range PCR-based NGS protocol for diagnosing Mendelian retinal diseases, achieving high sensitivity and expanding coverage to non-coding regions.
International Journal of Molecular Sciences · Feb 3, 2021Peer-reviewedGenetic & Genomic Medicine