Skip to content

Latest commit

 

History

History

README.md

Mobile element sequences

File AluY_L1_SVA_cons_noPA.fa contains consensus sequences of three major human active mobile element families (AluY, L1HS and SVA) excluding the polyA tails. It can be used with the -T option to add mobile element insertion (MEI) information in the INFO field of somatic/mosaic variant calls.

Non-centromeric regions

File chm13v2.reg.nocen.bed excludes the approximate locations of centromeric satellite repeats and acrocentric short arms in CHM13 v2.0, which was manually constructed based on the official satellite annotation, the DNA-BRNN satellite annotation and the minigraph pangenome graph from the HPRC year-1 data.

File hs38.reg.nocen.bed was constructed similarly from DNA-BRNN annotation and excludes regions where minigraph alignment faded.

File hs37.reg.nocen.bed was constructed by running DNA-BRNN on GRCh37 (hs37d5.fa).