While Whole Genome Sequencing (WGS) is the preferred and most cost-effective approach with smaller prokaryotic and eukaryotic genomes, the sheer scale of vertebrate and plant genomes may require a substantial investment in bioinformatics and data mining to effectively apply this information to genetic medicine and clinical diagnostics. For this reason, many researchers prefer to evaluate only the coding regions of an organism (i.e. the exome), or in the alternative, a set of specific genes or sequences of interest.

Whole Exome Sequencing

On average, the exome consists of 1/100th of the whole genome (see Table 1 in Important Considerations for coverage-related issues).

Our Whole Exome Sequencing (WES) service seeks to capture the coding sequences and the associated 5′ and 3′ untranslated regions (i.e. the expanded exome).

WES kits are currently available for human and mouse. ACGT can prepare exome libraries using any commercial exome kit for Illumina® platforms.

Gene Panels and Custom Target Panels

ACGT can analyze a variety of targeted gene panels, including the Illumina TruSeq Custom Amplicon, TruSeq Amplicon – Cancer Panel (TSACP), the Illumina TruSight family of panels (including TruSight Exome and TruSight One), Agilent Technologies SureSelect and HaloPlex products, Ubiquity Genomics Custom Capture kits, and Integrated DNA Technologies xGen® Lockdown® Panels and Probes. We can also sequence customer-prepared targeted sample libraries constructed with any number of methods including other commercial kits (must be compatible with Illumina platforms).