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Fig. 4 | Molecular Medicine

Fig. 4

From: Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing

Fig. 4

Haplotype phasing of pathogenic alleles containing the c.5098G > C (p.Glu1700Gln) and c.5975A > G (p.Lys1992Arg) variants. Long-read sequencing (LRS) was performed on the Oxford Nanopore Technologies (ONT) platform for samples (A) DE4777, (B) DE4886, and (C) DE5604. Phased haplotypes, designated as allele 1 and allele 2, were determined based on the presence of c.5098G > C (p.Glu1700Gln) (right) and the respective compound heterozygous variants (middle)

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Molecular Medicine

ISSN: 1528-3658