SOPHiA DDM™ for Metabolism
Understanding genetic variants in metabolic diseases
Metabolic disorders are a major cause of morbidity and mortality, representing a growing health concern worldwide. Over the last decade, substantial progress has been made in the discovery of genetic variants influencing a range of metabolic diseases.1
The advances in next generation sequencing (NGS) technologies have contributed to elucidation of the pathogenic role of variants associated with metabolic phenotypes, leading to a significant improvement in the throughput and diagnostic rate. For robust and accurate annotation of variant and gene function, novel algorithms and inferential frameworks are continuously emerging to advance the research and better inform healthcare professionals.
SOPHiA DDM™ for Metabolism helps you confidently and rapidly assess the most relevant genetic variants associated with complex inherited metabolic disorders (e.g., the maturity onset diabetes of the young (MODY)), and the familial lipid disorders (e.g., familial hypercholesteremia).
The SOPHiA DDM™ Platform offers a streamlined analytical workflow (from FASTQ file to report), thus reducing turnaround time and increasing operational efficiency. Relying on the platform’s high-quality metrics, you can make better-informed decisions for a better care.
The SOPHiA DDM™ Platform offers a streamlined analytical workflow (from FASTQ file to report), thus reducing turnaround time and increasing operational efficiency. Relying on the platform’s high-quality metrics, you can make better-informed decisions for a better care.
Accelerate your genomic analyses with SOPHiA DDM™
Using the SOPHiA DDM™ Platform you can identify complex variants from the noisy NGS data confidently and rapidly. The platform features intuitive variant filters and prioritization options that maximize performance by also streamlining the interpretation process. In particular, the platform provides:
- Uniform coverage of the most relevant genes linked to metabolic disorders, such as MODY, familial hypercholesterolemia, dyslipidemia
- Accurate identification of multiple types of variants in one assay
- Intuitive variant filter options (e.g., Virtual Panel and Cascading Filters), machine learning-based variant classification (complementing the ACMG ranking), and the possibility to gain and share knowledge on relevant variants with peers through global and local user networks.
Characterize your variants in depth with Alamut™ Visual Plus
With SOPHiA DDM™ Platform, you also have access to Alamut™ Visual Plus, a full-genome browser that enables comprehensive variant annotation and visualization. Alamut™ Visual Plus accelerates variant assessment by integrating numerous curated genomic and literature databases, guidelines, missense and slicing predictors, while also offering customizable reporting and local data management.
Examples of covered metabolic diseases:
Maturity onset diabetes of the young (MODY)
Simultaneously analyze the mutations in 7 of the known MODY genes in a single test:
ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11.
Simultaneously analyze the mutations in 7 of the known MODY genes in a single test:
ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11.
Familial hypercholesterolemia
Efficiently detect mutations in 4 of the known genes associated with familial hypercholesterolemia in a single test:
LDLR, PCSK9, APOE, APOB and 12 SNPs.
Efficiently detect mutations in 4 of the known genes associated with familial hypercholesterolemia in a single test:
LDLR, PCSK9, APOE, APOB and 12 SNPs.
Our approach to metabolic disorders
COMPREHENSIVE
Covers the entire care path
COLLABORATIVE INTELLIGENCE
Allows experts to share knowledge in real time
EFFICIENT
Reaches high analytical performance*
SCALABLE
Offers a scalable, decentralized model
Related genomic solutions
SOPHiA DDM™ for Rare and Inherited Diseases
From data to insights to confident care
Quickly and accurately analyze the massive amount of data coming from your NGS-based applications (from multiple exome solutions) to identify variants associated with rare and inherited disorders.
SOPHiA DDM™ for Cardiology
Getting to the heart of inherited cardiac diseases
Reduce your turnaround time with a streamlined workflow to accurately identify variants linked to the most prevalent inherited arrhythmias and cardiomyopathies.
Delivering deep, impactful insights to BioPharma
Leverage our broad real-world genomic database and AI driven analytics to support your clinical development strategy and:
- gain insights into biomarker testing practices
- streamline biomarker driven clinical trial enrollment
- accelerate drug development process
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