Rare Diseases

Explore new frontiers in exome analysis

Announcing our first Illumina NovaSeq™ 6000 pipeline for the high-throughput analysis of large NGS datasets!

Automated data upload, analysis, and variant annotation, freeing up time and valuable resources.

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Your exploration partner for Rare Diseases

Next-generation sequencing (NGS) of the human exome has the potential to identify pathogenic variants responsible for complex phenotypes associated with rare diseases.

Exome sequencing is a widely used NGS method that analyzes the protein-coding regions (exons) of the human genome. Exons represent about 1% of the genome but contain ∼85% of disease-causing mutations.1 Clinical- and whole-exome sequencing have emerged as reliable and cost-effective approaches for the characterization of rare diseases, especially those with complex phenotypes. However, exome sequencing identifies tens of thousands of exonic variants. To identify variants of interest from such vast and complex genomic data sets, scientists need a reliable and user-friendly analytical platform that adapts to their laboratory needs to accurately detect and prioritize pathogenic variants.

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Enhance your variant discovery with
advanced analytics and dedicated features

Quickly and accurately detect variants associated with rare diseases with the advanced analytical capabilities and dedicated features of the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus. Streamline your exome data-driven research today.

Mitochondrial DNA detection

Mutations in mitochondrial DNA (mtDNA) cause a diverse range of diseases affecting 1 in 5000 people,2 a substantial portion of the rare disease community. NGS of the mitochondrial genome, alongside the exome, can be valuable in rare disease research. In a single workflow, the SOPHiA DDM™ Platform analyzes variants in mtDNA alongside SNVs, Indels, and CNVs in both coding and biologically-relevant non-coding regions of nuclear DNA. The platform’s sophisticated algorithms address the unique challenges associated with the mitochondrial genome such as the variable amount of mtDNA and heteroplasmy, to identify potentially causative variants.

Comprehensive variant filtering

Exome sequencing can detect tens of thousands of variants, and determining which variants are associated with a rare disease phenotype can be a daunting task. Virtual Panels, Familial Variant Analysis, and Cascading Filters are user-friendly, time-saving features in the SOPHiA DDM™ Platform that can prioritize variants for further analysis.

Virtual Panels: Integrated databases such as HPO automatically select genes associated with the suspected disease.

Familial Variant Analysis: Variant haplotypes are displayed in SOPHiA DDM™ with the option to filter according to inheritance mode.

Cascading Filters: Custom strategies can be set up in a few clicks using filters such as ACMG score, ClinVar pathogenicity, and SOPHiA GENETICS prediction.

Clear visualization of variants

When you are ready to focus on your variants of interest, Alamut™ Visual Plus allows you to connect the dots by exploring them on a genomic scale in a comprehensive, full genome browser supported by world-renowned curated databases, guidelines, and splicing predictors. The intuitive and user-friendly interface allows visualization of variants in GRCh37/38 assemblies and the mitochondrial genome, while conveniently displaying flanking regions and overlapping genes.

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High-throughput analytics for every workflow

To support accurate variant detection and streamline variant assessment in a single experiment, the analytical capabilities of the SOPHiA DDM™ Platform can be combined with the optimal exome enrichment panel and sequencer for your laboratory.

Learn more about our Clinical Exome Offerings for Rare Disease

SOPHiA DDM™ Clinical Exome Solution v3


SOPHiA DDM™ for Illumina Trusight® One and Illumina Trusight® One Expanded


Learn more about our Whole Exome Offerings for Rare Disease

SOPHiA DDM™ Whole Exome Solution v2


SOPHiA DDM™ for Roche KAPA HyperExome Solution


SOPHiA DDM™ for Agilent SureSelect Human All Exon V8 Solution


SOPHiA DDM™ for Twist Human Core Exome and Twist Human Comprehensive Exome


Custom Exome Panels: Zoom in on your genes of interest

We work with you to customize exome enrichment panels and analytical pipelines to meet your needs. With our assistance, you can rapidly design and adopt a capture-based target enrichment kit that accurately analyzes genes relevant to your laboratory, with in-depth consultation and installation assistance for a fast and worry-free transition to routine genetic testing.

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Want to know more?
Get in touch with us.

Our client services team is on hand to help.

1. van Dijk EL, Auger H, Jaszczyszyn Y, et al. Trends Genet 2014;30:418-426.
2. Falk MJ, Sondheimer N. Curr Opin Pediatr 2010;22:711–16.