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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 […]

Exceptional cancer case offers new hope for diagnosis and treatment

Researchers at the Spanish National Cancer Research Centre (CNIO) have described the exceptional case of a 36-year-old woman who has […]

Genomics week in brief: Week ending 22nd October

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

Genomics week in brief: Week ending 3rd September

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

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 […]