Noncoding genome sheds light on developmental disorders
Seven newly-identified variants in non-coding regions of the genome suggest a new diagnostic strategy for developmental disorders in children...
42 articles
Developmental disorders linked to 28 newly associated genes
285 genes have been identified as being causally implicated in developmental disorders, 28 of which have never previously been linked with such conditions...
Exome sequencing of newborns may not be as accurate as blood testing
Exome sequencing may not be as reliable as standard blood testing for identifying rare diseases in newborns...
Known genes associated with male infertility doubled
Thirty-three genes associated with male infertility have been identified through a 'genomics-first' approach to understanding the condition...
Global cancer genome study reveals genetic secrets
The largest-ever study of cancer genomes, the Pan-Cancer Project, has published a collection of 23 papers as the result of a ten-year collaboration...
NHS DNA sequencing to speed up diagnosis of critically ill children
A new form of DNA testing that has the potential to rapidly diagnose rare diseases in critically ill babies and children has been made available on the NHS...
Gene linked to depression, and largest genetic study launched
Researchers have identified a gene variant that increases the risk of depression, while elsewhere the largest genetic study testing for risk factors gets underway...
GIANT makes short work of height gene discovery
A recent large-scale study that discovered 83 rare genes related to human height reveals the power of so-called genome-wide association studies...
Exome project reveals 3230 disease genes
More than 3230 genes with the propensity to cause disease have been identified in an analysis of the largest exome dataset yet...
No benefit from expanding cancer-risk gene test beyond the essentials
Adding more genes to existing multi-gene panels that test for breast and ovarian cancer risk offers little clinical benefit, a study says...