File descriptions: * GRCh38-f1g-90.gfa.gz: graph taking GRCh38 as the reference - reference: GRCh38 - sample 1: CHM13 - rest of haplotypes added in the lexicographical order of populations and then file names - no HG002, HG005 or NA19240 in the graph - 90 haplotypes in total including GRCh38 and CHM13 - GRCh38-f1g-90.gfa.log shows the exact command line * CHM13-f1g-90.gfa.gz: graph taking CHM13v1Y as the reference - reference: CHM13v1Y - sample 1: GRCh38 - rest of samples are the same as in GRCh38-f1g-90.gfa.gz * {GRCh38,CHM13}-f1g-90.bb.bed.gz: variation bubbles generated by `gfatools bubble` 1. chromosome 2. start 3. end 4. # GFA segments in the bubble including the source and the sink of the bubble 5. # all possible paths through the bubble (not all paths present in input samples) 6. 1 if the bubble involves an inversion; 0 otherwise 7. length of the shortest path (i.e. allele) through the bubble 8. length of the longest path/allele through the bubble 9-11. obsolete fields 12. list of segments in the bubble; first for the source and last for the sink 13. sequence of the shortest path (* if zero length) 14. sequence of the longest path (NB: it may not be present in the input samples) * {GRCh38,CHM13}-f1g-90.anno.bed.gz: crude annotations for the longest walk in each bubble. Generated by `minigraph/misc/mgutils.js anno` from RepeatMasker, lh3/minimap2/sdust, lh3/dna-brnn and lh3/etrf outputs. 1-11. copied from *.bb.bed.gz 12. annotations - most categories from RepeatMasker (e.g. SINE/Alu and LINE/L1) - inter: mixed interspersed repeat - alpha: alpha repeat - hsat2/3: hsat2 or hsat3 - micro: microsatellite / STR (repeat unit <=6bp in length) - mini: low-complexity minisatellite / VNTR (repeat unit >6bp) - lcr: low-complexity regions but not clearly STR or VNTR - mixed: mixed interspearsed repeats and LCR repeats - partial: partially repeats (<70%); segmental duplications fall in this category - self: non-repetitive but have good hits to the reference genome 13-. detailed annotations and their lengths