Table 1.
Summary of genomic analyses.
Sequencing analysis | |
Number of amplicons attempted | 219,229 (100%) |
Number of amplicons passing quality control* | 208,311 (95%) |
Fraction of bases in passing amplicons with PHRED > 20 | 98.3% |
Number of genes analyzed | 20,661 |
Number of transcripts analyzed | 23,219 |
Number of exons analyzed | 175,471 |
Total number of nucleotides successfully sequenced | 689,071,123 |
Number of somatic mutations identified (n = 22 samples) | 2,325 |
Number of somatic mutations (excluding Br27P) | 993 |
Missense | 622 |
Nonsense | 43 |
Insertion | 3 |
Deletion | 46 |
Duplication | 7 |
Splice site or UTR | 27 |
Synonymous | 245 |
Average number of sequence alterations per sample | 47.3 |
Copy number analysis | |
Total number of SNP loci assessed for copy number changes | 1,069,688 |
Number of copy number alterations identified (n = 22 samples) | 281 |
Amplifications | 147 |
Homozygous deletions | 134 |
Average number of amplifications per sample | 6.7 |
Average number of homozygous deletions per sample | 6.1 |
Passing amplicons were defined as having PHRED20 scores or better over 90% of the target sequence in 75% of samples analyzed [see (12) for additional information].