Table 6. Read based support of assembly calls.
Assembly | SV type | total | filtered | supported | fraction |
---|---|---|---|---|---|
Haplotype 1 lra | DEL | 6101 | 5874 | 5767 | 0.982 |
Haplotype 1 minimap2 | DEL | 6078 | 5924 | 5841 | 0.986 |
Haplotype 2 lra | DEL | 6287 | 6061 | 5963 | 0.984 |
Haplotype 2 minimap2 | DEL | 6267 | 6107 | 6033 | 0.989 |
Haplotype 1 lra | INS | 9736 | 9354 | 9275 | 0.992 |
Haplotype 1 minimap2 | INS | 9882 | 9619 | 9587 | 0.997 |
Haplotype 2 lra | INS | 10032 | 9651 | 9568 | 0.991 |
Haplotype 2 minimap2 | INS | 10183 | 9890 | 9859 | 0.997 |
The two haplotype assemblies are considered separately to avoid complications of merging into a diploid callset. Calls are produced by lra and minimap2, with only deletion and insertion SV classes considered. The total calls are the original calls produced by each method, and filtered are calls excluding centromeres and 50kb of flanking sequence. The supported SV have at least four reads supporting the call from either lra or minimap2 alignments.