Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples

Table 5.

MHC haplotype coverage

Haplotype MHC length MHC assembly length Coverage with RCCX CNV (%) Estimated RCCX length Coverage without RCCX CNV (%)
PGF 3,666,139a 3,603,019 98.28 63,120 100.00
COX 3,590,884a 3,560,067 99.14 24,160 99.81
EAS-P-1 3,556,161b 3,466,357 97.47 89,804 100.00
EAS-P-2 3,752,278b 3,668,815 97.78 83,463 100.00
EUR-P-1 3,665,951b 3,600,868 98.22 64,783 99.99
EUR-P-2 3,623,607b 3,559,803 98.24 63,504 99.99
AFA-1 3,745,027b 3,687,868 98.47 57,159 100.00
AFA-2 3,624,487b 3,567,034 98.41 57,453 100.00
  • MHC assembly length is the sum of the contig lengths generated by the MHC assembly pipeline. The majority of the missing coverage is across the RCCX CNV which was omitted from the assembly. The RCCX CNV length and layout were estimated from the Bionano optical maps.

  • aMHC length is known.

  • bMHC length is estimated using Bionano optical maps.

This Article

  1. Genome Res. 34: 1500-1513

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