Variantyx | A provider of genomic diagnostic solutions

Spotlight on fragile X syndrome

June 13, 2018

Fragile X syndrome (FXS) is one of the most common heritable forms of intellectual disability. 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.

The FXS mutation is one of the many pathogenic expansions screened for by the Variantyx Unity™ test. Read this week's post to learn more ...

Spotlight on fragile X syndrome

Read this week's post about the cause of FXS: expansion of the unstable FMR1 CGG repeat ...

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Why 30X WGS beats 100X WES for variant coverage

May 16, 2018

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. Doesn’t 100X provide better variant coverage 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 ...

Why 30X WGS beats 100X WES for variant coverage

Read our recent post which discusses why this is true ...

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A clinically validated whole genome pipeline for structural variant detection and analysis

On Demand Webinar

Many benefits are inherent in whole genome sequencing (WGS) technology, including unique opportunities for detection of structural variants. Yet such analyses have generally not made their way into clinical practice.

Listen in as we describe the clinically validated WGS pipeline that we have developed for highly specific and sensitive detection of structural variants. We will discuss the combined use of breakpoint analysis, read depth ...

A clinically validated whole genome pipeline for structural variant detection and analysis

On Demand Webinar

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NGS in Medical Genetics

Thanks to all who participated in the recent NGS in Medical Genetics conference held in Sudzal, Russia!

We appreciated the opportunity to raise awareness of using clinical WGS to detect small sequence changes, structural variants, short tandem repeats and mitochondrial variants among so many individuals dedicated to providing the best diagnostics for their patients.

NGS in Medical Genetics

Thanks to all who participated in the recent conference held in Sudzal, Russia!

Revolutionizing genomic medicine with advanced diagnostic products and services

Revolutionizing genomic medicine with advanced diagnostic products and services

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