AmpliSeq (targeted regions, exome, SSRs)
AmpliSeq is a rapid and cost-effective method for high-throughput screening of genetic variants. It is widely used in studies targeting regions of interest that may be involved in genetic diseases, cancers, or allowing the characterisation of microbial or viral populations, plant cultivars of agronomic interest etc…
The technique is based on the enrichment by highly multiplexed PCR of DNA or cDNA regions (from tens to several thousand). Panels of predefined primers are provided by various suppliers. Tools are also available to custom design primers specific to a given genetic study. The specific variants amplified can cover, for example, a group of genes involved in oncology (lung, colon or breast cancer) or the entire exome. Variations in simple sequence repeats (SSRs) or microsatellites can also be analysed. These highly polymorphic motifs are very informative for population or cultivar studies.
Initially applied to short-read sequencing technologies (Illumina for example), the protocols have been adapted to long-read technologies (PacBio, ONT). Karst S M et al. Nat Methods 2021
