e82f973dc7a5a814f0fd23999aa27222fa1260da max Fri Mar 20 09:56:15 2026 -0700 primateAI track, refs #37274 diff --git src/hg/makeDb/doc/hg38/primateAi.txt src/hg/makeDb/doc/hg38/primateAi.txt new file mode 100644 index 00000000000..803b2531bbf --- /dev/null +++ src/hg/makeDb/doc/hg38/primateAi.txt @@ -0,0 +1,17 @@ +# PrimateAI-3D, Claude max, Mar 19 2026 + +# Source: PrimateAI-3D.hg38.txt.gz from https://primateai3d.basespace.illumina.com/ +# 70.7M missense variant pathogenicity predictions + +cd /hive/data/genomes/hg38/bed/primateai +# download PrimateAI-3D.hg38.txt.gz from Illumina BaseSpace (requires registration) + +# convert to BED (1-based input -> 0-based BED), colored by percentile (blue=benign, red=pathogenic) +python3 ~/kent/src/hg/makeDb/scripts/primateAiToBigBed.py +# 70,667,466 variants written + +# sort and convert to bigBed +sort -k1,1 -k2,2n primateAi.bed > primateAi.sorted.bed +bedToBigBed -type=bed9+ -as=$HOME/kent/src/hg/makeDb/scripts/primateAi.as -tab \ + primateAi.sorted.bed /hive/data/genomes/hg38/chrom.sizes primateAi.bb +rm primateAi.bed primateAi.sorted.bed