Human vs Three-toed box turtle LastZ results

Human (Homo sapiens, GRCh38) and Three-toed box turtle (Terrapene carolina triunguis, T_m_triunguis-2.0) were aligned using the LastZ alignment algorithm (LastZ) in Ensembl release 99. Human was used as the reference species. After running LastZ, the raw LastZ alignment blocks were chained according to their location in both genomes. During the final netting process, the best sub-chain was chosen in each region on the reference species.

Configuration parameters

ParameterValue
Gap open penalty (O)400
Gap extend penalty (E)30
HSP threshold (K)3000
Threshold for gapped extension (L)3000
Threshold for alignments between gapped alignment blocks (H)2200
Masking count (M)
Seed and Transition value (T)1
Scoring matrix (Q)
Default:
     A    C    G    T
    91 -114  -31 -123
  -114  100 -125  -31
   -31 -125  100 -114
  -123  -31 -114   91

Chunking parameters

ParameterHumanThree-toed box turtle
Chunk size30,000,00010,100,000
Overlap0100,000
Group set size010,100,000
Masking options{default_soft_masking => 1}{default_soft_masking => 1}

Statistics over 361,656 alignment blocks

Genome coverage (bp) Coding exon coverage (bp)
Human

Uncovered: 2,968,589,603 out of 3,096,649,726
Covered: 128,060,123 out of 3,096,649,726

Uncovered: 6,431,919 out of 35,602,741
Matches: 21,625,201 out of 35,602,741
Mismatches: 7,152,366 out of 35,602,741
Insertions: 393,255 out of 35,602,741
Identity over aligned base-pairs: 74.1%

Three-toed box turtle

Uncovered: 2,472,943,813 out of 2,571,267,249
Covered: 98,323,436 out of 2,571,267,249

Uncovered: 8,976,881 out of 33,075,402
Matches: 18,149,637 out of 33,075,402
Mismatches: 5,625,768 out of 33,075,402
Insertions: 323,116 out of 33,075,402
Identity over aligned base-pairs: 75.3%

Block size distribution

Size range All 361,656 alignment blocks Blocks grouped in nets
# blocks Total size (incl. gaps) # nets Total size (incl. gaps)
1 bp - 10 bp
751
3.9 kb
10 bp - 100 bp
42,717
3.1 Mb
14,850
1.1 Mb
100 bp - 1 kb
302,232
90.9 Mb
123,057
44.2 Mb
1 kb - 10 kb
15,305
26.3 Mb
20,371
47.0 Mb
10 kb - 100 kb
649
13.3 Mb
1,411
32.2 Mb
100 kb - 1 Mb
2
200.6 kb
48
9.4 Mb