The goal of the project is two-fold: the exome sequencing portion of the study will look for genes that underlie the genesis of the disease, while whole-genome sequencing of patients' plasma will be used to look for patient-specific rearrangements that could be used as the basis for a test.
Study leader Nigel Carter said that the project will use Agilent Technologies' comparative genomic-hybridization arrays and Illumina's whole-genome SNP-genotyping arrays to gather genetic information on enrolled patients.
The Wellcome Trust Sanger Institute and the National Health Services' Clinical Genetics Services will analyze the genomes of thousands of children with developmental disorders and birth malformations in the hope of developing diagnostics.
DDN said the Sanger Institute will use the system to store data from the UK10K project, a three-year initiative that began last year and aims to sequence and analyze 10,000 individuals in the UK in order to discover rare genetic variants that are important in human disease.
Combining whole-genome sequencing with social network analysis, researchers were able to determine that a tuberculosis outbreak in British Columbia several years ago was likely not instigated by genetic changes to the pathogen, but was instead likely due to increased usage of crack cocaine in the community.
Earlier this month at the Advances in Genome Biology and Technology conference, several centers — including the Broad Institute, Baylor College of Medicine, the Wellcome Trust Sanger Institute, Cold Spring Harbor Laboratory, the Yale Center for Genome Analysis, and the NIH Intramural Sequencing Center — provided updates on their current sequencing capacity and how they are putting it to use.
The study highlights the potential of next-generation sequencing to identify variants that allow pathogenic bacteria to evade drugs, and could enable the development of new therapies.
Direct-to-consumer genetic testing companies are searching for a genetic reason for why some people, but not others, become gravely ill with COVID-19, the Detroit Free Press reports.
In PNAS this week: forward genetics-base analysis of retinal development, interactions of T cell receptors with neoantigens in colorectal cancer, and more.
