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Pathogenic BRCA1 Variant Traced Back to Remote Scottish Islands

A recent study, published in the European Journal of Human Genetics, traced a pathogenic variant in the BRCA1 gene to […]

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 […]

A framework for identifying treatable targets in rare genetic diseases

Written by Charlotte Harrison, Science Writer The rarity of many genetic conditions means that the traditional model of drug discovery […]

New Study Sheds Light on Endometriosis Genetics and Pain Mechanisms

In a recent study, published in Nature, researchers conducted a large genome-wide association study on endometriosis, including data from more […]

Cancer drug discovery and development

Drug discovery is a time-consuming and costly process, particularly given the high number of trials that ultimately “fail” or have […]