Variant Classification

A Spotlight On: Variants of uncertain significance – Kimberly Gilmour

28 October 2021

Meet EVE – a variant prediction model

Genome Giants: Heidi Rehm – Chief Genomics Officer, Mass General Hospital

2 November 2020

Prioritising individuals with disease but low PRS for sequencing

29 October 2020

Clinical utility of exome sequencing in pregnancy loss

14 September 2020

Novel statistical test for interpreting pathogenicity of rare variants

Phenotypic refinement critical in exome interpretation

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