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Rare and Undiagnosed Diseases
Let us work together to overcome diagnostic barriers.
Rare and undiagnosed diseases can complicate diagnosis due to their complex genetic structures and multi-layered molecular mechanisms.
CNVs, deletions, epigenetic modifications, and rare variants, which are difficult to detect using conventional methods, can now be analyzed more accurately and reliably using next-generation sequencing technologies.
One Step Closer to Diagnosis: Targeted Exome Sequencing
SOPHiA GENETICS Clinical Exome Solutions (CES) are targeted exome sequencing solutions optimized for analyzing the molecular basis of rare and undiagnosed diseases.
Working in conjunction with the SOPHiA DDMTM platform, they enable precise variant detection and clinical interpretation.
5.500+
Target Genes
SNV, CNV, Indel
200+
Non-coding Variant
%99.4
Coverage Depth
Trio
Analysis
ACMG
Scoring
Gain Depth in Clinical Analysis with SOPHiA DDM
With its machine learning-powered analysis infrastructure, SOPHiA DDMTM manages the entire bioinformatics process with high precision, from variant filtering to reporting. It integrates with SOPHiA GENETICS CES to facilitate diagnosis.
55+ database
Clinical Annotation
AI-powered Analysis
Reporting
Clinical Genomic Data
AI and machine learning
Data Visualization
Case analysis and interpretation
Personalized Clinical Insights
Take a comprehensive step toward genetic diagnosis with Whole-Exome Sequencing.
SOPHiA DDMTM Whole Exome Solution v2 covers the coding regions of 19,425 genes and the entire mitochondrial genome. Probe design is highly optimized to ensure high read coverage in target regions and coverage homogeneity, including GC-rich regions (including the first exon).
Ideal for clinical and translational research.
The detection rate varies depending on different disease groups and analysis approaches, but averages around 25%.
Whole-exome sequencing is a comprehensive genomic analysis method preferred for purposes such as discovering new diseases, prenatal screening, and early diagnosis in asymptomatic individuals, in cases where conventional tests are insufficient.
Large structural variants, mitochondrial mutations, epigenetic changes, and repetitive regions may not be detected by exome sequencing.
Copy number variations (CNVs) in particular may not be directly detected in conventional exome analysis. However, thanks to the specialized algorithms used in the SOPHiA DDM™ platform, these variants can be analyzed using advanced bioinformatics approaches.
Expert Insights into NGS: Rare Diseases
Dr. Arda Çetinkaya discusses how next-generation sequencing (NGS) is revolutionizing the diagnosis and research of rare and undiagnosed diseases.