• Just like a chameleon utilizing its
    colored pigments and crystals to
    adapt to its surroundings,
    we proactively pioneer and adapt to
    the everchanging NGS markets with
    our cutting-edge technology to
    support our customer’s needs.

G-Mendeliome Clinical Exome Sequencing

Sensitive Detection of Variants with Clinically Significant Genetic Diseases

Hard-to-capture regions available with accurate result

Overview

Celemics’ G-Mendeliome Clinical Exome Sequencing (CES) Panel is
designed to overcome the limitations of analyzing clinical diseases
with conventional whole-exome sequencing.

The CES is a widely used diagnostic method to rapidly and efficiently detect disease-causing
genetic variations within target genes in the human genome.
The G-Mendeliome CES Panel includes both clinically significant genes used in other panels
and other additional genes, therefore allowing customers to obtain comprehensive
information of mutations in genes of interest in a cost-effective manner.
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Features &
Benefits

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    Comprehensive genomic profiling of a variety of genetic diseases
    Includes 7,000 genes associated with clinically significant genetic diseases
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    A wide range of target regions
     Includes all clinically significant regions that are not covered
    by competitor's panels
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    Cost-effective analysis
    Able to provide accurate analysis with reduced sequencing
    costs compared to WES

Performance

Design of G-Mendeliome CES panel and comparison data

G-Mendeliome CES

Company A + Company B + over 70 genes

The CES Panel was developed to meet the needs of GC Genome,
the largest clinical NGS service provider in South Korea,
to solve the problems of poor diagnostic rates and high costs.

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Comparison data: ZNF419 gene

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Comparison data: COL6A5 gene

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Through the in-house manufacturing and probe design system of Celemics, customers can request the sequencing of homolog regions as well as hare-to capture regions 

The comparison data showed obtained sequencing reads for ZNF419 and COL6A5 genes, which are commonly masked in other panels.

Example of G-Mendeliome Sequencing Analysis Report

G-Mendeliome CES panel contains around 7,000 disease-related genes as target regions. The related diseases are listed in the table below.

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Applications

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    Research for germline cancer

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    Research for Inherited disease