Genome coverage and sequence fidelity of ϕ29 polymerase‐based multiple strand displacement whole genome amplification

摘要: Major efforts are underway to systematically define the somatic and germline genetic variations causally associated with disease. Genome-wide analysis of actual clinical samples is, however, limited by paucity genomic DNA available. Here we have tested fidelity genome representation f29 polymerase-based amplification (f29MDA) using direct sequencing high density oligonucleotide arrays probing >10 000 SNP alleles. Genome was comprehensive estimated be 99.82% complete, although six regions encompassing a maximum 5.62 Mb failed amplify. There no degradation in accuracy genotyping and, experiments sampling 500 bp, error rate (9.5 3 10 ‐6 ) same as paired unamplified samples. The detection cancer-associated loss heterozygosity copy number changes, including homozygous deletion gene amplification, were similarly robust. These results suggest that f29MDA yields fidelity, near-complete suitable for resolution analysis.