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Exome Sequencing And Data Analysis
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The protein coding, or exonic regions, constitute ~1.5% of the human genome. An estimated 85% of known variations/mutations underlying disease-related traits occur in the exons of the genome [1]. Mutations identified in the exonic regions are typically actionable compared to variations that occur in non-coding regions. Exome sequencing involves selective capture and sequencing of these protein coding regions of the genome. Compared to whole genome sequencing, exome sequencing is more cost effective and also provides better per base coverage.
Exome Sequencing And Data Analysis
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Laboratory Equipment