Genome sequencing is set to revolutionise the diagnosis of rare childhood conditions, according to researchers in Cambridge.
Patches of healthy tissue can contain groups of cells with genetic mutations, researchers reported June 6 in Science. In the study, they analyzed 29 different tissue types taken from 488 people.
In the first large-scale analysis of cancer gene fusions, which result from the merging of two previously separate genes, researchers at the Wellcome Sanger Institute, EMBL-EBI, Open Targets, GSK and their collaborators have used CRISPR to uncover which gene fusions are critical for the growth of cancer cells.
Investigators at the University of British Columbia (UBC)/Centre for Molecular Medicine & Therapeutics (CMMT) and BC Children’s Hospital have examined more than 25 years of data to reveal new insights into predicting the age of onset for Huntington disease.