Human vs Abingdon island giant tortoise LastZ results

Human (Homo sapiens, GRCh38) and Abingdon island giant tortoise (Chelonoidis abingdonii, ASM359739v1) were aligned using the LastZ alignment algorithm (LastZ) in Ensembl release 96. 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

ParameterHumanAbingdon island giant tortoise
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 346,822 alignment blocks

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

Uncovered: 2,989,778,877 out of 3,099,750,718
Covered: 109,971,841 out of 3,099,750,718

Uncovered: 9,281,605 out of 38,571,754
Matches: 21,718,282 out of 38,571,754
Mismatches: 7,145,123 out of 38,571,754
Insertions: 426,744 out of 38,571,754
Identity over aligned base-pairs: 74.1%

Abingdon island giant tortoise

Uncovered: 2,208,152,769 out of 2,300,739,315
Covered: 92,586,546 out of 2,300,739,315

Uncovered: 6,391,783 out of 29,396,458
Matches: 17,318,936 out of 29,396,458
Mismatches: 5,387,967 out of 29,396,458
Insertions: 297,772 out of 29,396,458
Identity over aligned base-pairs: 75.3%

Block size distribution

Size range All 346,822 alignment blocks Blocks grouped in nets
# blocks Total size (incl. gaps) # nets Total size (incl. gaps)
1 bp - 10 bp
773
3.9 kb
10 bp - 100 bp
39,029
2.9 Mb
13,004
972.2 kb
100 bp - 1 kb
291,916
87.2 Mb
120,687
43.3 Mb
1 kb - 10 kb
15,032
24.1 Mb
20,335
46.4 Mb
10 kb - 100 kb
72
1.3 Mb
863
19.4 Mb
100 kb - 1 Mb
35
5.4 Mb