Technological considerations for genome-guided diagnosis and management of cancer

摘要: Technological, methodological, and analytical advances continue to improve the resolution of our view into cancer genome, even as we discover ways carry out analyses at greater distances from primary tumor sites. These are finally making integration genomic profiling clinical practice feasible. Formalin fixation paraffin embedding, which has long been default pathological biopsy medium, is now being supplemented with liquid a means profile genomes patients. At each stage data generation process—sample collection, preservation, storage, extraction, library construction, sequencing, variant calling—there variables that impact sensitivity specificity result utility test. include sample degradation, low yields nucleic acid, allele fractions (proportions assayed molecules carrying allele(s)). We review here most common pre-analytical factors relating routine patient genome profiling, some solutions challenges, major preparation sequencing technology choices available today.