Table 2.
HLA and KIR validation
| |
Exome sequencing |
Standard genotyping |
Standard genotyping (excluding SA006 & SA035) |
||||
|---|---|---|---|---|---|---|---|
| |
SNPs vs HG19
a
|
Alleles
b
Present |
SNPs vs HG19 |
Concordance rate (%) |
SNPs vs HG19 |
Concordance rate (%) |
|
| Known | Novel | ||||||
| KIR (13 genes) |
1469 |
91 |
31 |
955 |
99.99 |
670 |
99.99 |
| HLA class 1 A |
690 |
16 |
|
690 |
99.98 |
619 |
100.00 |
| HLA class 1 B |
925 |
12 |
|
925 |
99.99 |
745 |
99.99 |
| HLA class 2 C | 986 | 8 | 986 | 100.00 | 814 | 100.00 | |
aNon-reference single nucleotide polymorphisms.
bUnique coding sequences.