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Fig. 1 | Eye and Vision

Fig. 1

From: Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population

Fig. 1

General characterization of germline variants in individuals with keratoconus (KC) and controls. a Distribution of indels and single nucleotide variants (SNVs) across the four minor allele frequency (MAF) bins. The bin of ‘‘MAF < 0.05’’ excludes singletons and doubletons. b Fraction of variants annotated by RefSeq genomic functions across the four MAF bins. The bin of ‘‘MAF < 0.05’’ excludes singletons and doubletons. c Principal Component Analysis plot comparing KC individuals with populations from the 1000 Genomes Project. d Fraction of exonic variants annotated by the Variant Effect Predictor (VEP). e Distribution of the prevalence of pathogenic alleles among cases. B-mis: benign missense; D-mis: damaging missense; PTVs: protein-truncating variants; Syn: synonymous

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Eye and Vision

ISSN: 2326-0254