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BRCA2 c.9227G>T variant found to be pathogenic

Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

Phenotypic refinement critical in exome interpretation

A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]

Let’s talk about colon cancer

The recent passing of actor and role model, Chadwick Boseman, from colon cancer has shocked the nation. This shock seems […]

Deep learning in genomics – are we there yet?

As genomic sequencing becomes more routine, handling the sheer volume of data being produced is causing major issues. We must […]