The identification of single nucleotide and structural variants in gene sequencing

The TLA Technology constitutes a paradigm shift in targeted next generation sequencing (NGS). The TLA technology uses the physical proximity of nucleotides within a locus of interest as the basis of selection. DNA is cross-linked, fragmented and ligated. Only one to a few primer pairs specific for a genetic locus of interest are in-turn required for the amplification of an entire locus. TLA  enrichment in combination with NGS is a very flexible and easy approach to sequence regions of interest and identify all single nucleotide variants (SNV's) and structural variants including comprehensive gene-fusion sequencing and the characterization of transgenes and their integration sites. Implementation of automated sample prep and QC for TLA technology will be discussed with an overview of liquid handling and microfluidic solutions for increasing productivity in NGS sample prep workflows.