Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches.

摘要: Next generation sequencing (NGS), or massively paralleled sequencing, refers to a collective group of methods in which numerous reactions take place simultaneously, resulting enormous amounts data for small fraction the cost Sanger sequencing. Typically short (50–250 bp), NGS reads are first mapped reference genome, and then variants called from data. While most applications focus on detection single nucleotide (SNVs) insertions/deletions (indels), structural variation, including translocations, larger indels, copy number variation (CNV), can be identified same Structural performed whole genome “targeted” exomes gene panels. However, while targeted greatly increases coverage depth particular genes, it may introduce biases that require specialized informatic analyses. In past several years, there have been considerable advances used detect full range SNVs balanced translocations CNV now detected with reasonable sensitivity either Such being rapidly applied clinical testing where they supplement some cases replace conventional fluorescence situ hybridization array-based testing. Here we review informatics approaches