egSEQ Exome offers enhanced performance in SNV, InDel, CNV and other relevant variants.
 
Genome-wide coverage of CNVs
CNVs, caused by genomic rearrangements may occur on a genome-wide scale. egSEQ Exome Inherit adds a genome-wide high-density SNP backbone to cover CNVs comprehensively. CNVs, often the result of significant genomic rearrangements, can have profound implications for genetic research, including the understanding of complex diseases and phenotypes. egSEQ Exome Inherit is designed to cast a wide net, ensuring that CNVs spanning the entire genome are comprehensively captured and analysed.
 
Thorough ClinVar Coverage
Coverage of key variants in non-coding regions allowing comprehensive ClinVar coverage. ClinVar is a pivotal resource for clinicians and researchers, housing a wealth of information about the clinical significance of genetic variants. egSEQ Exome Inherit ensures that you don't miss out on key variants, both coding and non-coding, listed in ClinVar, allowing you to provide a more complete assessment of genetic risk and disease predisposition.
 
Full-length coverage of mtDNA
Mitochondrial DNA (mtDNA) is a pivotal player in the realm of mitochondrial genetic diseases. To comprehensively understand and diagnose these conditions, it is essential to capture the entirety of the mtDNA molecule. egSEQ Exome Inherit captures the full-length mtDNA of 16569bp, providing important mutation information of mitochondrial genetic diseases.
 
Customisable
Customisable human whole exome sequencing (WES) solutions with market-leading performance. With egSEQ Exome Panels, you can streamline your exome sequencing workflows, saving valuable time and resources. These panels integrate seamlessly into NGS library preparation protocols, allowing for efficient and cost-effective analysis.
egSEQ Exome Panels are adaptable to your specific research needs. Whether you're investigating hereditary diseases, cancer, or any other area of genomics, these panels can be customised to focus on the genes and regions most relevant to your study, offering flexibility without compromising efficiency.