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/meiEul1db.as src/hg/makeDb/scripts/mei/meiEul1db.as new file mode 100644 index 00000000000..4ce4f20c3f9 --- /dev/null +++ src/hg/makeDb/scripts/mei/meiEul1db.as @@ -0,0 +1,32 @@ +table meiEul1db +"euL1db: curated L1-HS retrotransposon insertion polymorphisms (Mir et al. 2015)" +( +string chrom; "Reference chromosome" +uint chromStart; "0-based start of MRIP region" +uint chromEnd; "Half-open end of MRIP region" +string name; "MRIP accession (mripN)" +uint score; "Score (pseudo-allele-frequency * 1000)" +char[1] strand; "Strand" +uint thickStart; "Start of thick drawing region" +uint thickEnd; "End of thick drawing region" +uint itemRgb; "RGB color, by lineage (germline/somatic/mixed)" +float pseudoAlleleFreq; "Pseudo-allele frequency|Aggregated frequency reported by euL1db" +int sripCount; "Sample observations (SRIPs)|Number of sample-level SRIP entries merged into this MRIP" +int sampleCount; "Distinct samples|Number of unique samples contributing" +int individualCount; "Distinct individuals|Number of unique individuals contributing" +int studyCount; "Distinct studies|Number of studies reporting this insertion" +string subGroups; "L1HS sub-group(s)|Comma-separated set (L1-Ta, L1-pre-Ta, L1-Hybrid, unknown)" +string integrity; "Integrity|Comma-separated set (full-length, 5prime-truncated, unknown)" +string lineage; "Lineage|germline, somatic, or both" +string pcrValidated; "PCR validated|yes if any contributing SRIP has PCR evidence" +string gene; "Overlapping gene|Reported in euL1db MRIP table" +string inReferenceL1HS; "In reference L1HS|yes if euL1db marks this MRIP as present in reference" +string warning; "Warning|euL1db curation warning, if any" +lstring studies; "Study list|Comma-separated study IDs" +lstring pmids; "PubMed IDs|Comma-separated PMIDs" +lstring methods; "Detection methods|Comma-separated method names" +lstring tissues; "Tissues|Comma-separated unique tissues" +lstring diseases; "Clinical conditions|Comma-separated unique disease/clinical states" +lstring populations; "Populations|Comma-separated unique populations" +lstring sampleTable; "Contributing samples|HTML table (sample, individual, study, lineage, integrity, subgroup, PCR)" +)