Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield.

摘要: For the reasons discussed here, we think whole-genome- or exome-based approaches are currently most suited for diagnostic implementation in genetically heterogeneous diseases, initially to complement and later replace Sanger sequencing, qPCR genomic microarrays. Patients do need be counseled possibility of receiving medically relevant information not related disease under investigation, but this chance can minimized by a focused data-analysis process. Establishing pathogenicity individual genetic variants remains daunting task, requiring novel bioinformatic tools high-throughput functional approaches, at least now more sure that have missed variation.