Sequence capture technology allows targeted enrichment of specific regions of a genome such as an entire exome. This, in concert with NGS, provides an efficient strategy for high-throughput screening of regions of interest, facilitating the identification and characterisation of physiologically relevant variants. As such, sequence capture is a cost effective alternative to whole genome sequencing.
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These enrichment systems for targeted capture enable accurately:
- SNP calling
- insertion/deletion (InDel) or insertion/deletion polymorphism (DIP) calling,
- copy number variation and structural rearrangement analysis
- analysis of insertion sites of mobile or viral DNA elements.
- target a region of interest
- high level of specificity and uniformity of data
- improved coverage in repetitive regions
- time and cost savings.