00e086afbcb8296c6aef946c13eeb777f34bac02 max Mon May 11 07:03:10 2026 -0700 mei: new track for HGSVC3 mobile element insertions on hg38 and hs1 12,642 MEIs on hg38, 12,919 on hs1, from the HGSVC3 callset (Logsdon et al. 2025). Single shared trackDb stanza in human/mei.ra with $D substitution. Okabe-Ito colors, INS-svLen:carrierCount item names, inserted DNA in an insertSeq field. Cross-link to lrSv via relatedTracks.ra. refs #37524 diff --git src/hg/makeDb/scripts/mei/meiHgsvc3.as src/hg/makeDb/scripts/mei/meiHgsvc3.as new file mode 100644 index 00000000000..b732e266a3f --- /dev/null +++ src/hg/makeDb/scripts/mei/meiHgsvc3.as @@ -0,0 +1,29 @@ +table meiHgsvc3 +"Novel Mobile Element Insertions in 65 HGSVC3 long-read assembled samples (vs 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 (INS, insertion length, carrier sample 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, snRNA)" +string teType; "Repeat designation|Repeat designation as reported in source (e.g. SINE/Alu)" +int svLen; "Insertion length (bp)" +int altAlleleCount; "Carrier haplotypes|Haplotypes carrying the insertion" +int alleleNumber; "Genotyped haplotypes|Total haplotypes successfully genotyped" +float altAlleleFreq; "Allele frequency|Fraction of genotyped haplotypes carrying the insertion" +int carrierCount; "Carrier samples|Samples with at least one insertion allele" +int sampleCount; "Genotyped samples|Samples with at least one called haplotype" +string sourceSample; "Discovery sample|Sample-haplotype in which the insertion was originally called" +int callerCount; "Caller count|Number of MEI callers supporting this insertion (1 or 2)" +string l1meAid; "L1ME-AID validated|Whether the insertion was validated by L1ME-AID (Yes/No)" +string palmer; "PALMER validated|Whether the insertion was validated by PALMER (Yes/No)" +float refSegDup; "Segmental dup. overlap|Fraction of insertion site overlapping reference segmental duplications (REF_SD)" +string refTrf; "Tandem repeat|Insertion site overlaps a reference tandem repeat (REF_TRF)" +lstring carrierSamples; "Carrier sample list|Comma-separated list of samples with at least one insertion allele" +lstring insertSeq; "Inserted sequence|DNA sequence of the inserted mobile element (ALT allele minus the anchor base)" +)