IndraLab
Statements
reach
"Utilizing the publicly available GnomAD32 database, we replicate findings where regions with known RBP function are more likely to contain rare (minor allele frequency [MAF] < 0.1%) and disruptive (Δln(LR) < −0.5) variants (Figure 7C, Mann-Whitney test p < 0.001).33 For example, rare variants disrupting SF3B4 and PRPF8 binding are enriched in proximal introns near 5′ SS and 3′ SS, respectively, resonating with the known splice-site-defining function of both spliceosomal proteins."
sparser
"Utilizing the publicly available GnomAD xref database, we replicate findings where regions with known RBP function are more likely to contain rare (minor allele frequency [MAF] < 0.1%) and disruptive ( Δ ln(LR) < −0.5) variants ( xref C, Mann-Whitney test p < 0.001). xref For example, rare variants disrupting SF3B4 and PRPF8 binding are enriched in proximal introns near 5′ SS and 3′ SS, respectively, resonating with the known splice-site-defining function of both spliceosomal proteins."