Low level mosaicism in nuclear genes (variant with a minor allele fraction of 14.6% is detected with 90% probability).This test may not reliably detect the following: Non-coding variants deeper than ☒0 base pairs from exon-intron boundary unless otherwise indicated (please see above Panel Content / non-coding variants covered by the panel).Repeat expansion disorders unless specifically mentioned.Some of the panels include the whole mitochondrial genome but not all (please see the Panel Content section).Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data.Our rigorous variant classification scheme.~2,000 non-coding disease causing variants in our clinical grade NGS assay for panels (please see ‘Non-coding disease causing variants covered by this panel’ in the Panel Content section).Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level.Some of the panels include the whole mitochondrial genome (please see the Panel Content section).Careful construction of clinically effective and scientifically justified gene panels.
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