Variantyx Posts

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 …

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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 …

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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 …

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Evolution of genomic care – part 1

developmental delay

In a three-part series, we’re exploring how the standard of care, as it pertains to genetic testing, is evolving for rare disease diagnosis. In this first part we’re looking at the traditional approach to genetic testing by following the typical diagnostic journey of a young child with symptoms of developmental delay. Symptoms such as a delay in speech and language skills, social and emotional difficulties, and sensitivity to certain sensations …

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A selection of 2017 articles foreshadowing future clinical WGS applications

clinical wgs applications

We usually focus on current clinical applications of whole genome sequencing (WGS), but we’re just as interested in seeing how the technology is advancing for future clinical use. In a twist on typical “best of” year-in-review posts, we’re taking time in this first week of 2018 to highlight a few 2017 scientific publications that provided a glimpse into possible clinical applications for WGS in the future …

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A role for whole genome sequencing in cancer predisposition testing?

cancer predisposition

Last month the nation participated in observance of breast cancer awareness. This month the focus is on lung cancer awareness. Early next year the annual cycle will begin again, with more than two dozen awareness campaigns undertaken for cancer throughout the year. With inherited mutations estimated to play a role in 5 to 10% of all cancers, screening for cancer predisposition is an important tool for raising awareness of an individual’s risk. Which leads us to consider the current state of cancer predisposition screening and whether it could be improved …

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