Distribution of benign and pathogenic variants from ClinVar, GnomAD v3.1.2, GnomAD subset with MAF of variants > 0.1%, and the GAPH-resulted variant set

ALIGNMENT OF PSEUDOREADS OBTAINED FROM HOMOLOGOUS SEQUENCES IN IDENTIFYING POTENTIALLY TOLERATED GENOMIC VARIANTS

Figure 1 - Distribution of benign and pathogenic variants from ClinVar, GnomAD v3.1.2, GnomAD subset with MAF of variants > 0.1%, and the GAPH-resulted variant set

Distribution of benign and pathogenic variants from ClinVar, GnomAD v3.1.2, GnomAD subset with MAF of variants > 0.1%, and the GAPH-resulted variant set

the total number of benign and pathogenic variants is indicated in parentheses

DOI: 10.18454/jbg.2023.21.2.2