Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]
Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]
A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]
When an individual undergoes genomic screening, the opportunity arises to further review their genomic data in the future. This is […]
Last week (27 – 30th October 2020), the American Society of Human Genetics (ASHG) hosted their annual meeting. The meeting […]
The recent passing of actor and role model, Chadwick Boseman, from colon cancer has shocked the nation. This shock seems […]
As genomic sequencing becomes more routine, handling the sheer volume of data being produced is causing major issues. We must […]
