The clinical accuracy of whole genome sequencing to detect repeat expansions was prospectively examined in previously genetically tested and undiagnosed patients recruited in 2013-17 to the 100000 Genomes Project in the UK, who were suspected of having a genetic neurological disorder (familial or early...
Pilot whole genome sequencing service: Bupa becomes first UK major private healthcare provider to pilot whole genome sequencing forselected UK customers, identifying risk of disease across more than 36 conditions including 10 cancers ·‘My Genomic Health’ begins as a two-year pilot offering more t...
Keep up with all the latest news from the UK and around the world by following Sky News Tap here Through its Genomic Medicine Service, NHS England already offers whole genome sequencing for any child diagnosed with cancer, but it's not routinely used by most hospitals. The researchers conclude...
We examined the feasibility of using whole-genome sequencing (WGS) data to design tumour-specific polymerase chain reaction (PCR)-based MRD tests (WGS-MRD) in 18 children with high-risk relapsed cancer, including ALL, high-risk neuroblastoma (HR-NB) and Ewing sarcoma (EWS) (n = 6 eac...
We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: ...
Sequencing. The bioinformatics workflow for WGS falls into the following steps: (1) raw read quality control; (2) data preprocessing; (3) alignment; (4) variant calling; (5)genome assembly; (6)genome annotation; (7) other advanced analyses based on your research interest such as phylogenetic...
Whole-genome sequencing reveals the genetic mechanisms of domestication in classical inbred miceResearch Open access Published: 26 September 2022 Volume 23, article number 203, (2022) Cite this article Download PDF You have full access to this open access article ...
Creative Biolabs offers different possibilities for whole genome sequencing to help you investigate key genes and characterize specific gene functions for target identification and validation process.
Glioblastoma (GBM) has one of the worst 5-year survival rates of all cancers. While genomic studies of the disease have been performed, alterations in the non-coding regulatory regions of GBM have largely remained unexplored. We apply whole-genome sequencing (WGS) to identify non-coding mutation...
Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining quantitative PCR and whole-genome sequencing measurements from 462,666 UK Biobank participants.