Kimberly Gilmour is Director of Laboratory Medicine at Great Ormond Street Hospital for Children. She utilises next generation sequencing and […]
No this is not EVE from the Disney Pixar Film WALL-E – but it is close. Researchers have developed an […]
Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]
Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at […]
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 […]
Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space! Top […]
Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space! Top […]
New research has found that as many as 1 in 4 children with cerebral palsy have an underlying genetic condition. […]
Recently, researchers have developed a novel method that uses convolutional neural networks to detect adaptive introgression in the human genome. […]
