Variantyx Posts

Spotlight on inherited ataxias

inherited ataxias

Genetic ataxias are caused by mutations that result in the production of abnormal proteins. These abnormal proteins impact the function of nerve cells, particularly in the cerebellum and spinal cord, generally resulting in degeneration and progressive worsening of symptoms. Some cases of genetic ataxias are sporadic, arising through independent acquisition of a mutation, but most are inherited.

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Spotlight on Charcot-Marie-Tooth disease

charcot-marie-tooth disease

Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nervous system. There are many different forms of the disease. Some are caused by small nucleotide changes, while others are caused by gene duplication or deletion events which can be detected by whole genome sequencing.

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How to incorporate FACE2GENE phenotype data into WGS testing


When trying to solve a diagnostic odyssey case through whole exome (WES) or whole genome sequencing (WGS), access to complete and accurate phenotype information is one of the most important factors. To make it as easy as possible for clinicians to provide phenotype information when submitting cases for genetic testing, we partnered with FDNA to create a conduit between their widely used FACE2GENE phenotyping application and our genetic testing platform.

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Spotlight on Fragile X syndrome

fragile x syndrome

Fragile X syndrome (FXS) is one of the most common heritable forms of intellectual disability, occurring in approximately 1 in 4,000 males and 1 in 8,000 females. In nearly all cases, the causative mutation is an expansion of the unstable CGG repeat sequence present in the 5’ UTR of the FMR1 gene.

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Six variant interpretation strategies for NGS data analysis

variant interpretation

We’ve spoken frequently about variant detection, but variant interpretation is just as important to providing useful genetic testing results. Particularly in the case of whole exome (WES) and whole genome (WGS) analyses which identify thousands of variants. Here we focus on six key variant interpretation strategies that geneticists reviewing a case should have access to.

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Why 30X WGS beats 100X WES for variant coverage

variant coverage

We’re often asked why whole genome sequencing (WGS) is only performed at 30X coverage while whole exome sequencing (WES) is typically performed at 100X coverage. Isn’t 100X better than 30X? If we’re comparing apples to apples, the answer would logically be yes. But in reality we’re comparing apples to oranges, so the answer is not so intuitively no. Here’s why.

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Detecting large structural variants using WGS

structural variants

In this week’s post we’re taking a closer look at large (>50bp) structural variants, including copy number variants (CNVs). Previously, we’ve noted how whole genome sequencing (WGS) technology provides unique opportunities for detection of CNVs. But we’re often asked what specific types of structural variants are detected by WGS.

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