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Human vs Tuatara LastZ results

Human (Homo sapiens, GRCh38) and Tuatara (Sphenodon punctatus, ASM311381v1) were aligned using the LastZ alignment algorithm (LastZ) in Ensembl release 95. 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
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

ParameterHumanTuatara
Chunk size30,000,00010,100,000
Overlap0100,000
Group set size10,100,000
Masking options{default_soft_masking => 1}{default_soft_masking => 1}

Statistics over 320,890 alignment blocks

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

Uncovered: 3,004,860,857 out of 3,099,750,718
Covered: 94,889,861 out of 3,099,750,718

Uncovered: 10,137,150 out of 38,571,754
Matches: 20,957,880 out of 38,571,754
Mismatches: 7,069,107 out of 38,571,754
Insertions: 407,617 out of 38,571,754
Identity over aligned base-pairs: 73.7%

Tuatara

Uncovered: 4,192,910,875 out of 4,272,214,985
Covered: 79,304,110 out of 4,272,214,985

Uncovered: 4,909,847 out of 25,347,208
Matches: 15,372,521 out of 25,347,208
Mismatches: 4,818,832 out of 25,347,208
Insertions: 246,008 out of 25,347,208
Identity over aligned base-pairs: 75.2%

Block size distribution

Size range All 320,890 alignment blocks Blocks grouped in nets
# blocks Total size (incl. gaps) # nets Total size (incl. gaps)
1 bp - 10 bp
865
4.1 kb
10 bp - 100 bp
37,717
2.8 Mb
14,134
1.1 Mb
100 bp - 1 kb
270,443
77.4 Mb
137,516
47.4 Mb
1 kb - 10 kb
11,860
19.0 Mb
18,369
39.9 Mb
10 kb - 100 kb
4
91.6 kb
424
9.2 Mb
100 kb - 1 Mb
1
100.2 kb
14
1.8 Mb