Variantyx Posts

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.

Read More ...

In silico panels: An effective tool for performing targeted, outcome-driven analyses of WGS data

in silico panels

In our last post, we talked about the importance of periodically reanalyzing whole exome (WES) and whole genome sequencing (WGS) data for unsolved cases. An additional benefit of reanalysis of WGS data is that there’s no need to worry about coverage and changing pull-down kits as knowledge of exonic and regulatory regions of emerging importance grows. The full genomic sequence is already available. Which leads us to consider another related strength of WGS technology in this post: support for in silico panels.

Read More ...

Periodic data reanalysis leads to higher diagnostic yield

data reanalysis

A case came to us in early 2017. The patient was an adult male with symptoms of muscle weakness along with limb girdle and distal inclusion body myopathy, with a suspicion of autosomal dominant inheritance. We process new cases all the time, sequencing the whole genome to obtain the most comprehensive coverage of variants possible. And for the subset that don’t receive a diagnosis following interpretation, we routinely subject them to periodic reanalysis. But this particular case was a data reprocessing project from the very beginning …

Read More ...

Rare disease resources

rare disease day

Today, Wednesday February 28th, marks Rare Disease Day® 2018.

For the past 11 years, the last day of February has been designated as the day to raise global awareness of rare diseases …

Read More ...

Evolution of genomic care – part 3

clinical wgs

In the final installment of our three-part of the series, we’re looking at how the standard of care is continuing to evolve, as clinical whole genome sequence (WGS) testing enables a more comprehensive view of the exome while simultaneously identifying mitochondrial variants, structural aberrations and trinucleotide repeat expansions (including expansions of FMR1) with a single test …

Read More ...

Evolution of genomic care – part 2

wes

In this second installment of our three-part series, we’re looking at how whole exome sequence (WES) testing is increasingly being accepted as an alternative to targeted gene analysis, for faster and more cost-effective identification of causative SNVs and indels …

Read More ...
Scroll Up