Rapid, scalable and highly automated HLA genotyping using next-generation sequencing: a transition from research to diagnostics

Table 2 HLA typing accuracy using NGS

Locus	Total NGS typing	DNA not sufficient for NGS typing	No NGS result possible (insufficient read count)	Initial successfull NGS typing	Reference Sanger typing missing	Initial correct NGS typing compared to Sanger (if available)	Concordance rate Sanger vs. NGS
A	173	0	5	168 (97.1%)	1	167	100.0%
B	173	0	1	172 (99.4%)	0	172	100.0%
C	172	1	2	170 (98.8%)	4	166	100.0%
DRB1	172	1	2	170 (98.8%)	1	169	100.0%
DRB3	115	0	20	95 (82.6%)	4	91	100.0%
DRB4	79	1	1	78 (98.7%)	4	74	100.0%
DRB5	54	0	0	54 (100.0%)	1	53	100.0%
DQB1	162	11	0	162 (100.0%)	4	158	100.0%
DPB1	173	0	1	172 (99.4%)	105	67	100.0%
all	1273	14	32	1241 (97.3%)	124	1117	100.0%

Number of total NGS typings per locus is shown next to the number of initial successful NGS typings. A typing was initial successful if a result could be generated in the ATF software. Sanger typing results from the validation panel were available for all loci with few exceptions. An initial correct NGS typing could be only scored if a valid reference Sanger typing was available. No generated NGS result was wrong compared to the reference typing.

ISSN: 1471-2164