PDF(Pubmed)
Abstract：
High-throughput sequencing techniques have significantly increased the molecular diagnosis rate for patients with monogenic disorders. This is primarily due to a substantially increased identification rate of disease mutations in the coding sequence, primarily SNVs and indels. Further progress is hampered by difficulties in the detection of structural variants and the interpretation of variants outside the coding sequence. In this review, we provide an overview about how novel sequencing techniques and state-of-the-art algorithms can be used to discover small and structural variants across the whole genome and introduce bioinformatic tools for the prediction of effects variants may have in the non-coding part of the genome.
摘要：
高通量测序技术显著提高了单基因疾病患者的分子诊断率。这主要是由于编码序列中疾病突变的鉴定率大大提高。主要是SNV和indel。结构变体的检测和编码序列外变体的解释中的困难阻碍了进一步的进展。在这次审查中,我们概述了如何使用新的测序技术和最先进的算法来发现整个基因组中的小型和结构性变异,并引入生物信息学工具来预测变异可能在基因组非编码部分产生的影响.
