G-Mendeliome Clinical Exome Sequencing Panel

Sensitive Detection of Variants with Clinically Significant Genetic Diseases

Overview

Proven NGS-based Clinical Diagnostics Solutions

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 panels aim to only include clinically significant regions specifically related to inherited diseases.


Because of its compact size compared to the whole exome panel, the CES panel can be used 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.

Clinical Exome
Features & Benefits

Comprehensive Genomic Profiling of a Variety of Genetic Diseases

CES panel includes wide range of 7,000 genes associated with clinically significant genetic diseases, even including all clinically significant regions that are not covered by competitors panels.

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.

Company A

G-Mendeliome CES

SORT1
GSTM1
SLC16A1
IL10
.
.

TNFRSF4
CASP9
MIR30C1
IL19
COL6A5
.
.

SCNN1D
PRDM16
TNFRSF9
LCK
ZNF419
.
.

Company B

CDK11B
AZIN2
INSRR
TTC7A
CAMK1
.
.
over
70 genes

Comparison data: ZNF419 gene

Clinical Exome graph

Comparison data: COL6A5 gene

Clinical Exome graph
  • 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.

Cost-effective NGS Analysis

Along with extensive range of target regions, our CES panel provides the most cost-effective NGS solution by selectively analyzing clinically significant targets; it is designed to provide accurate analysis with reduced sequencing costs compared to whole exome sequencing yet still demonstrate market leading on-target ratio and uniformity

Clinical Exome

Other Features

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Easy Customization and Gene Add-on Services

Gene add-on service for additional target analysis or complete customization available

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Different Tiers of Analysis Service Available

Additional clinical report service also available for CES expanded panel

Other features image

Flexible Integration on Various Sequencing Platform

Compatible with various sequencer; facilitated by Celemics’ chemistry optimization and blocking oligo design technology

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count* 5,516 / 7,563 genes
Covered region CDS, hotspots, Mitochondrial genome
Target size 13.8 / 19.6 Mb
Mutation type SNV, Indel, CNV
Sample type(amount) Blood (> 50 ng of fragmented DNA)
Platform All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore
Bioinformatics Support ① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel
③ Tertiary Analysis: Clinical interpretation

Specification - LIST OF DISEASES ASSESSED BY G-MENDELIOME CES PANEL

G-Mendeliome CES Target Diseases

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

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count* 5,508 / 7,513 genes
Covered region CDS, hotspots, Mitochondrial genome
Target size 13.8 / 19.6 Mb
Mutation type SNV, Indel, CNV
Sample type(amount) Blood (> 50 ng of fragmented DNA)
Platform All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore
Bioinformatics Support ① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel
③ Tertiary Analysis: Clinical interpretation

Specification - LIST OF DISEASES ASSESSED BY G-MENDELIOME CES PANEL

G-Mendeliome CES Target Diseases

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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Incomparable quality magnetic bead for simple, flexible, and reproducible purification

Resources

Technical Resources

[Product Sheet] Celemics Clinical Exome Sequencing Panel

Celemics Target Enrichment Panel Overview

Celemics Products & Service

Safety Data Sheets

MSDS_G-Mendeliome Clinical Exome Panels_Illumina_Enzymeplus

MSDS_G-Mendeliome Clinical Exome Panels_Illumina

MSDS_G-Mendeliome Clinical Exome Panels_Thermo Fisher

MSDS_G-Mendeliome Clinical Exome Panels_MGI_EnzymePlus

MSDS_G-Mendeliome Clinical Exome Panels_MGI