4bd316f5f1ca47328bd3f9a181214b788055f0bc lrnassar Tue Apr 21 13:29:26 2026 -0700 NMD Escape QA round 3: switch RefSeq to curated, fix Rule 2 misclassification. refs #33737 Switched the NMD Escape RefSeq subtrack input from hg38.ncbiRefSeq.txt.gz (all) to hg38.ncbiRefSeqCurated.txt.gz (NM_/NR_ only, no XM_/XR_ predicted models) per Max's feedback. longLabel updated to "NCBI RefSeq Curated transcripts". Fixed Rule 2 in genePredNmdEsc to test rec["exonCount"]==1 instead of len(cdsExons)==1. The old test misclassified multi-exon transcripts with a single CDS exon (UTR introns) as "intronless" and silently suppressed their Rule 1/3/4 assignments via the if/else short-circuit. 3,253 RefSeq curated and ~2,000 Gencode transcripts reassigned from Rule 2 to Rules 1/3. Rebuilt both tracks. Added Rule 1 caveat to nmdEscTranscripts.html for transcripts with a penultimate coding exon shorter than 50 bp. Added reciprocal relatedTracks.ra entries for nmd <-> mane and nmd <-> ncbiRefSeq. QA cleanups: non-ASCII prime char replaced with ′, mailing list links given target="_blank" across all three HTML pages, dead commented nmdGencode block removed from nmd.ra, AutoSQL field comments updated to cover Rule 4 color and the gene-symbol-to-transcript-ID fallback. Makedoc updated with the full Gencode + RefSeq pipeline and /gbdb symlinks. diff --git src/hg/makeDb/trackDb/human/hg38/nmdDetective.html src/hg/makeDb/trackDb/human/hg38/nmdDetective.html index 571b8133cca..10bcc67b28a 100644 --- src/hg/makeDb/trackDb/human/hg38/nmdDetective.html +++ src/hg/makeDb/trackDb/human/hg38/nmdDetective.html @@ -76,32 +76,32 @@ The predictions were generated for every possible PTC-introducing single-nucleotide variant and for the first out-of-frame PTC from every possible single-nucleotide frameshifting indel across all human protein-coding transcripts. The original bedGraph custom track files were downloaded from the NMDetective Figshare page resource and converted to bigWig format at UCSC.

Data Access

The data underlying these tracks can be explored interactively with the Table Browser or the Data Integrator. For automated analysis, the data may be queried from our REST API. Please refer to our -mailing -list archives for questions, or our +mailing list archives for questions, or our Data Access FAQ for more information.

Credits

Thanks to Rik Lindeboom for providing custom tracks and the original NMDetective data on Figshare.

References

Lindeboom RG, Supek F, Lehner B.