egSEQ Whole Exome

Customisable human whole exome sequencing (WES) solutions with market leading performance.


egSEQ Exome Core Panel

Features:

  • Comprehensive CDS Coverage

  • egSEQ Exome Panels are specially optimised to capture CDS regions comprehensively with market leading effective coverage of up to 99.88%.

  • Optimised for Difficult to Capture Areas

  • Enhanced targeting of difficult-to-capture regions such as high GC regions and repeated sequences.

  • Highly Uniform Coverage

  • Cost-Effective

  • Flexible multiplying of up to 12-plex.

  • Efficient data generation with 8~8.5 Gb of raw data/100X effective sequencing depth.

  • Combine egSEQ DNA Library Prep with egSEQ Exome for a cost-effective and seamless DNA library preparation and hybridisation whole exome sequencing solution.

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egSEQ Exome Inherit Panel

Specifically designed and optimised for clinicians and researchers of heritable diseases

egSEQ Exome Inherit 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.

  • Thorough ClinVar Coverage

Coverage of key variants in non-coding regions allowing comprehensive ClinVar coverage.

  • Full-length coverage of mtDNA

egSEQ Exome Inherit captures the full-length mtDNA of 16569bp, providing important mutation information of mitochondrial genetic diseases.

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Applications: