Global Whole Exome Sequencing market Size by Type, End User and Application: Global
Opportunity Analysis and Industry Forecast, 2020-2025. The base year considered for the study is
2020, and the forecast has been provided for the period from 2020 to 2025.
Exome sequencing is a capture based method developed to identify variants in the coding region of
genes which affect protein function. While exome capture methods using PCR, hybrid capture and
molecular inversion probes exist, the most common and efficient strategies are in-solution capture
methods. In-solution capture utilizes pools of oligonucleotides or probes bound to magnetic beads,
whose sequence has been designed to hybridize to exon regions. After binding to genomic DNA,
these probes are pulled down and washed, allowing exon regions to be selectively sequenced.
While there are approximately 180,000 exons in the human genome, constituting less than 2% of
total sequence, the exome contains ~80-90% of known disease causing variants making it a cost-
effective alternative to whole genome sequencing. When performing exome-seq, users should not
only consider average on-target coverage but also the local coverage of particular sites of interest.
When choosing between exome and whole genome sequencing (WGS), consider that exome
sequencing has the advantage that oligonucleotides are designed to particular genomic regions
where typical coverage with WGS is not enough for SNP calling. It is also more affordable enabling
the analysis of more individuals and populations. With WGS, you can detect variants in regions not
covered by exome capture allowing or the identification of structural and non-coding variants
associated with disease.
The consumption of whole exome sequencing has exceeded 120 K samples per year. Whole exome
sequencing is mainly produced by American companies. Mainly largest producers in the world are
located in US.
The demand of whole exome sequencing service is very strong in Chinese market, especially in