Skip to content

Add GRCh38/CHM13 CpG-island and GENCODE gene reference fixtures for DMR - #4

Merged
ljwharbers merged 3 commits into
IntGenomicsLab:mainfrom
YannVRB:add-dmr-reference-fixtures
Sep 24, 2026
Merged

ljwharbers merged 3 commits into
IntGenomicsLab:mainfrom
YannVRB:add-dmr-reference-fixtures

Conversation

@YannVRB

@YannVRB YannVRB commented Sep 23, 2026

Copy link
Copy Markdown
Contributor

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's igenomes.config defaults.
  • 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

  • GRCh38 CpG islands: UCSC cpgIslandExt.txt.gz (bin column stripped).
  • GRCh38 gene models: GENCODE release 48 annotation GTF, gene-feature rows only.
  • CHM13 CpG islands: UCSC's T2T-CHM13v2.0 bigBed track (GCA_009914755.4_T2T-CHM13v2.0.cpgIslandExt.bb), converted via bigBedToBed, then remapped from GenBank accession contig names (e.g. CP068259.2) to chr-style names via UCSC's own chromAlias table for this assembly.
  • CHM13 gene models: UCSC's catLiftOffGenesV1.gtf.gz (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).

All chr19 subsets are position-sorted (bedtools closest, used downstream, requires sorted input).

YannVRB and others added 3 commits September 23, 2026 13:08
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
YannVRB added a commit to YannVRB/lrsomatic that referenced this pull request Sep 23, 2026
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
@ljwharbers
ljwharbers merged commit ca6ccf2 into IntGenomicsLab:main Sep 24, 2026
YannVRB added a commit to YannVRB/lrsomatic that referenced this pull request 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
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

2 participants