Exome sequencing is transforming the field of rare disease diagnosis and research. Healthcare scientists often spend many hours trying to filter and sift through tens of thousands of variants using a combination of web tools and publicly available databases. They may painstakingly search until they can finally identify the disease-causing one – the one that matters most. These challenges of managing and interpreting large data sets that exome sequencing generates can be a thing of the past with new advancements from SOPHiA GENETICS.
The healthcare expert’s time is precious. Every minute saved is a minute better spent on the patient’s journey.
Like finding a needle in a haystack, this new feature of SOPHiA Platform can help filter and generate short lists of clinically relevant variants, better supporting the expert’s interpretation and saving them time. Developed by experts for experts, the feature enables users to find the variant of interest with just a few clicks.
Very useful for large data sets, this feature identifies relevant variants much faster by narrowing down the candidate list “on the fly”. Therefore, users can easily select criteria (like population frequency, variant fraction, coverage and/or ACMG scoring and many more) from a dropdown menu and create the custom funnel that matches the case requirements. Successful filtering strategies can be saved and applied for future use, saving time for the expert’s interpretation. Additionally, the filtering strategy can now be included in the report, improving the traceability of the filtering process.
SOPHiA GENETICS is constantly improving and releasing additional features to streamline the user’s workflow, improve the management of massive data sets, and ultimately support experts in their assessment of variants.
SOPHiA GENETICS products are for Research Use and not for use in diagnosis. The information included has been prepared for and is intended for viewing by a global audience
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