4f8f8773bec66a9e993e9897e0b032c6e97dead8 max Fri May 15 10:12:29 2026 -0700 mei: add HMEID, SweGen, and euL1db subtracks Three new MEI catalogues under the existing mei superTrack: meiHmeid (hg38) 36,699 MELT MEIs from HMEID v1.1 (NyuWa+1KGP, 5,675 individuals, Niu et al. 2022, PMID 35212372). Site-level VCF; per-cohort and per-1KGP super- population AC/AN/AF; SVTYPE Alu/L1/SVA/HERVK. meiSwegen (hg38 lifted) 18,090 MELT MEIs from the SweGen 1,000-sample Swedish cohort (Ameur 2017, PMID 28832569; Gardner 2017, PMID 28855259). Built on hg19, liftOver to hg38 (10 unmapped). tableBrowser off per SweGen distribution terms. meiEul1db (hg19+hg38) 8,988 curated L1-HS insertion polymorphisms (MRIPs) from euL1db v1.00 (Mir 2015, PMID 25352549), aggregating 142,495 sample-level SRIPs across 32 published studies. Coloured by lineage (germline/somatic/mixed). Built on hg19, liftOver to hg38 (3 unmapped). Helman2014 used numeric chrom names (23=X, 24=Y) which are renamed during the build. meiEul1dbRef (hg19+hg38) 1,540 reference-genome L1-HS copies catalogued by euL1db (companion to meiEul1db). Single shared mei.ra (in human/) uses $D substitution so each stanza serves both assemblies where applicable. refs #37524 diff --git src/hg/makeDb/scripts/mei/meiSwegen.as src/hg/makeDb/scripts/mei/meiSwegen.as new file mode 100644 index 00000000000..7b008cc2d69 --- /dev/null +++ src/hg/makeDb/scripts/mei/meiSwegen.as @@ -0,0 +1,22 @@ +table meiSwegen +"Mobile Element Insertions in 1,000 SweGen samples (MELT, lifted from GRCh37 to GRCh38)" +( +string chrom; "Reference chromosome or scaffold" +uint chromStart; "0-based start position (anchor base)" +uint chromEnd; "Half-open end position (anchor base + 1)" +string name; "Item label (MEI class, allele count)" +uint score; "Score (alt-allele frequency * 1000)" +char[1] strand; "Strand (always .)" +uint thickStart; "Start of thick drawing region" +uint thickEnd; "End of thick drawing region" +uint itemRgb; "RGB color, by mobile-element class" +string teClass; "TE class|Family of mobile element (Alu, L1, SVA, HERVK)" +int svLen; "Insertion length (bp), -1 if unknown" +string meiSubfamily; "MELT MEI subfamily|MELT MEIINFO NAME (e.g. AluYa5, L1Ta, SVA, HERVK)" +string tsd; "Target site duplication|TSD sequence reported by MELT, '.' if unknown" +int assess; "MELT ASSESS score|0=no overlapping reads, 1=imprecise, 2=discordant pairs only, 3=left-side TSD only, 4=right-side TSD only, 5=TSD decided with split reads (highest quality)" +string internalGene; "Gene context|Transcript and location if insertion is in or near a gene (MELT INTERNAL); empty otherwise" +int altAlleleCount; "Carrier haplotypes|Haplotypes carrying the insertion (MELT_AN field, actually allele count)" +float altAlleleFreq; "Allele frequency|Alt-allele frequency across the 1,000 SweGen samples (MELT_AF)" +string filterStatus; "MELT filter|VCF FILTER column: PASS, hDP, rSD, s25 (or combinations)" +)