Next-generation sequencing applied to molecular diagnostics

摘要: Next-generation sequencing technologies have begun to revolutionize the field of cancer genetics through rapid and accurate assessment a patient's DNA makeup with minimal cost. These already led realization inter- intra-tumor genetic heterogeneity identification novel mutations chimeric genes, however, several challenges lie ahead. Given low number recurrent somatic aberrations in common types cancer, 'driver' has proven challenging. Furthermore, implementation next-generation and/or some its derivatives into routine practice as diagnostic tests will require in-depth understanding pitfalls these great degree bioinformatic expertise. This article focuses on contribution diagnosis prognostication prediction.