Add GRCh38/CHM13 CpG-island and GENCODE gene reference fixtures for DMR - #4
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ljwharbers merged 3 commits intoSep 24, 2026
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CI-sized (chr19-only) subsets for both GRCh38 and CHM13, for the LRsomatic haplotype-DMR feature (IntGenomicsLab/lrsomatic, branch add-dmr-haplotypes). GRCh38_chr19.cpg_islands.bed / GRCh38_chr19.gencode_gene.bed: filtered from UCSC's cpgIslandExt.txt.gz (bin column stripped) and GENCODE release 48's annotation GTF (gene-feature rows only) respectively, both to chr19. CHM13_chr19.cpg_islands.bed: converted from UCSC's T2T-CHM13v2.0 bigBed track (GCA_009914755.4_T2T-CHM13v2.0.cpgIslandExt.bb) via bigBedToBed, then remapped from GenBank accession contig names (e.g. CP068259.2) to chr-style names (chr19) using UCSC's own chromAlias table for this assembly. CHM13_chr19.gencode_gene.bed: derived from UCSC's catLiftOffGenesV1.gtf.gz (the CAT+Liftoff T2T-CHM13v2.0 annotation), which has no gene-level features -- gene extents computed by grouping transcript rows by gene_id (min start, max end). Co-Authored-By: Claude Sonnet 5 <noreply@anthropic.com> Claude-Session: https://claude.ai/code/session_01Wit78XR11V9AMAgY7gGrMT
Full-genome versions of references/dmr/{GRCh38,CHM13}_chr19.* (this branch's
other commit), for use as LRsomatic's production igenomes.config defaults.
Same source/processing as the chr19 fixtures -- see that commit message.
Co-Authored-By: Claude Sonnet 5 <noreply@anthropic.com>
Claude-Session: https://claude.ai/code/session_01Wit78XR11V9AMAgY7gGrMT
bedtools closest requires sorted input; CHM13's file was already sorted as a side effect of the transcript-grouping script, GRCh38's wasn't. Co-Authored-By: Claude Sonnet 5 <noreply@anthropic.com> Claude-Session: https://claude.ai/code/session_01Wit78XR11V9AMAgY7gGrMT
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Cosmetic only -- IntGenomicsLab/test-datasets#4 (add-dmr-reference-fixtures) is open but not yet merged, so the URLs themselves are unchanged. Co-Authored-By: Claude Sonnet 5 <noreply@anthropic.com> Claude-Session: https://claude.ai/code/session_01Wit78XR11V9AMAgY7gGrMT
YannVRB
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Sep 24, 2026
…asets IntGenomicsLab/test-datasets#4 merged -- dmr_cpg_islands_bed/dmr_gencode_gene_bed for both GRCh38 and CHM13 now point at IntGenomicsLab/test-datasets/main instead of the YannVRB fork branch. Verified all four URLs resolve (HTTP 200) before committing. Co-Authored-By: Claude Sonnet 5 <noreply@anthropic.com> Claude-Session: https://claude.ai/code/session_01Wit78XR11V9AMAgY7gGrMT
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What
Reference annotation data for IntGenomicsLab/lrsomatic's new haplotype DMR feature (IntGenomicsLab/lrsomatic#204): CpG island coordinates (to restrict DMR calls to) and gene models (to annotate DMR calls with their nearest gene), for both GRCh38 and CHM13.
Files added
references/dmr/{GRCh38,CHM13}.cpg_islands.bed.gz— genome-wide CpG islands, for production use as lrsomatic'sigenomes.configdefaults.references/dmr/{GRCh38,CHM13}.gencode_gene.bed.gz— genome-wide gene models, same purpose.references/dmr/{GRCh38,CHM13}_chr19.{cpg_islands,gencode_gene}.bed— chr19-only, uncompressed subsets for CI (matches lrsomatic's existing chr19 test profile).Sources
cpgIslandExt.txt.gz(bin column stripped).GCA_009914755.4_T2T-CHM13v2.0.cpgIslandExt.bb), converted viabigBedToBed, then remapped from GenBank accession contig names (e.g.CP068259.2) to chr-style names via UCSC's own chromAlias table for this assembly.catLiftOffGenesV1.gtf.gz(CAT+Liftoff T2T-CHM13v2.0 annotation), which has no gene-level features -- gene extents computed by grouping transcript rows bygene_id(min start, max end).All chr19 subsets are position-sorted (
bedtools closest, used downstream, requires sorted input).