f665d4cc3b02924a8507b2f910eaf85eab54d433 braney Sat Jul 18 14:12:24 2026 -0700 hprc2X: left-shifted HPRC r2 deletion analysis and external-catalog cross-reference scripts Deletion-only re-derivation of the HPRC Release 2 rearrangement track used to test left-shifting indel placement and to measure how the deletions correspond to dbSNP, DGV, ClinVar, and the previous (rel1) release. Includes the unbounded left-normalizer, the aggregation and subsampling drivers, the stability and cross-release carryover analyses, and the dbSNP rs cross-reference prototype. See README.txt for the manifest; full results and cached data live in /hive/data/genomes/hg38/bed/hprc2X. refs #37891 diff --git src/hg/makeDb/scripts/hprc2X/hprc2XIndelsOne.sh src/hg/makeDb/scripts/hprc2X/hprc2XIndelsOne.sh new file mode 100755 index 00000000000..0f9385219a0 --- /dev/null +++ src/hg/makeDb/scripts/hprc2X/hprc2XIndelsOne.sh @@ -0,0 +1,30 @@ +#!/bin/bash +# Regenerate the per-assembly indel intermediate for the hprc2X track set, this +# time left-normalizing pure deletions against the hg38 target sequence +# (chainInDel -t2bit). Everything else the hprc2 build produced (chain/net, +# bigChains, inversions, duplications) is reused unchanged from the hprc2 workdir, +# so this step only redoes the netChainSubset -> chainInDel indel extraction. +# Redmine #35415 +# Usage: hprc2XIndelsOne.sh + +set -beEu -o pipefail +# put the user build of chainInDel (with -t2bit support) ahead of the system copy +export PATH=$HOME/bin/x86_64:/cluster/bin/x86_64:/cluster/bin/scripts:$PATH +ulimit -s unlimited || true + +name="${1}" +SRC="${2}" # existing hprc2 workdir (chain/, net/ reused) +BED="${3}" # hprc2X workdir +t2bit=/hive/data/genomes/hg38/hg38.2bit + +chainF="${SRC}/chain/${name}.chain" +netF="${SRC}/net/${name}.net" +mkdir -p "${BED}/arr" + +topChain="${BED}/arr/${name}.top.chain" +netChainSubset "${netF}" "${chainF}" "${topChain}" -type=top 2>/dev/null +$HOME/bin/x86_64/chainInDel -t2bit="${t2bit}" "${topChain}" "${name}" \ + "${BED}/arr/${name}.indel.txt" 2>/dev/null +rm -f "${topChain}" + +echo "OK ${name}"