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

Table 1.

MHC capture and sequencing metrics

Sample ID Sequencer # SMRT cell per sample Total sequenced reads Reads passing quality filters Reads used in pipeline MHC-specific reads % of MHC-specific reads MHC-specific enrichment (fold) Normalized MHC-specific reads
PGF + COX Sequel II 0.5a 966,185 553,336 553,336 98,975 17.89 149.06 82,327
EAS-F Sequel II 0.5b 1,051,700 595,848 595,848 271,760 45.61 380.07 97,567
EAS-M Sequel II 0.5a 1,432,295 799,875 600,000 315,453 52.58 438.13 111,471
EAS-P Sequel II 1 4,834,630 1,912,901 600,000 172,559 28.76 239.67 117,112
AFA Sequel II 0.5b 1,106,650 637,925 600,000 178,484 29.75 247.89 97,500
EUR-F Sequel 2 1,167,299 937,719 800,000 194,468 24.31 202.57 c
EUR-M Sequel 3 2,008,996 1,586,392 1,586,392 163,881 10.33 86.09 c
EUR-P Sequel 2 1,393,143 1,083,856 650,000 187,084 28.78 239.85 c
  • Samples were sequenced on either the PacBio Sequel or Sequel II. All sequenced reads were processed with the CCS algorithm, retaining only HiFi reads for Sequel II samples, sub-HiFi reads were included for the Sequel samples (reads passing quality filters). The number of reads used in the pipeline (reads used in pipeline) depended on the sequencer and the percentage of MHC-specific reads (% MHC-specific reads) reflects the percent of all reads obtained that aligned to the MHC region. The maximum depth of coverage of the Sequel II samples was targeted to 250× using digital normalization (normalized MHC-specific reads).

  • (EAS-F) East-Asian father, (EAS-M) East-Asian mother, (EAS-P) East-Asian proband, (EUR-F) European father, (EUR-M) European mother, (EUR-P) European proband.

  • a,bThe higher capacity of the Sequel II allowed for multiple samples to be run together on a single flow cell, as indicated.

  • cMHC-specific reads in Sequel samples were not subjected to the digital normalization process due to the high error rate, so all MHC-specific reads were used in subsequent steps.

This Article

  1. Genome Res. 34: 1500-1513

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