Andrew Marderstein @amarderstein.bsky.social · 15/06/202613/ We then trained FLARE on heart data and applied it to de novo mutations in congenital heart disease, where most top scoring mutations were found in cases. 100
Andrew Marderstein @amarderstein.bsky.social · 15/06/202614/ One of the other applications of FLARE is to identify mutations that underlie outlier gene expression. In 791 adult brain samples with paired WGS and brain RNA-seq, top-scoring FLARE-brain variants were enriched near genes showing outlier underexpression. 110
Andrew Marderstein @amarderstein.bsky.social · 15/06/202615/ The paired RNA-seq also helped interpret FLARE variants. For example, two SNPs are only 78 bp apart but affect different genes: - one breaks an NFIL3 motif (lowering SENP3), - the other creates a ZEB/SNAI repressor motif (lowering TNFSF13). 100
