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A Spotlight On: Variants of uncertain significance – Kimberly Gilmour

Kimberly Gilmour is Director of Laboratory Medicine at Great Ormond Street Hospital for Children. She utilises next generation sequencing and […]

Meet EVE – a variant prediction model

No this is not EVE from the Disney Pixar Film WALL-E – but it is close. Researchers have developed an […]

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 […]

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

Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at […]

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 […]

Genomics week in brief: Week ending 23rd July

Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space! Top […]

Cerebral palsy can be genetic

New research has found that as many as 1 in 4 children with cerebral palsy have an underlying genetic condition. […]

What genes did humans inherit from Neanderthals?

Recently, researchers have developed a novel method that uses convolutional neural networks to detect adaptive introgression in the human genome. […]

Genomics in Drug Discovery & Development

Despite an increase in investment into R&D from biopharma companies, only 5-10% of drugs that enter early-stage clinical trials ever […]