Whole genome sequencing is increasingly used as a first-line test for other rare genetic disorders, and we aimed to assess its performance in the diagnosis of patients with neurological repeat expansion disorders. METHODS :We retrospectively assessed the diagnostic accuracy of whole genome sequencing ...
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...
Over the past several years, clinicians, patients and families in the UK have witnessed a dramatic change in the way genetic testing is performed, with the introduction of whole genome sequencing (WGS) and the NHS Genomic Test Directory in 2018 [1,2]. In addition to WGS becoming more access...
The whole-genome resequencing data was generated for the samples from 36 wild mice by Illumina technology. Approximately 1.4 Tb data was acquired. Raw sequencing data for the 36 wild mice ranged from 24.4 to 54.3 Gb (Additional file1: Table S3). After mapping to the mouse reference genome (...
Ecology ofHericium cirrhatum,H. coralloidesandH. erinaceusin the UK Fungal Ecol., 4 (2011), pp. 163-173 View PDF C. Zhang, W. Deng, W. Yan T, Lim, whole genome sequence of an edible and potential medicinal fungus,Cordyceps guangdongensis ...
Despite the success of genome-wide association studies, much of the genetic contribution to complex traits remains unexplained. Here, we analyse high coverage whole-genome sequencing data, to evaluate the contribution of rare genetic variants to 414 plas
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB) w
Genotyping errors are another source of bias associated with limitations on genotyping and sequencing technologies together with the reference genome itself, which can potentially produce important artifacts on TRD analyses. A false positive can be created easily if, for example, a homozygous parent was...
We also address the need for multiple reliable insertion sites in one genome in order to facilitate complex engineering in E. coli and show that all three loci characterised can be used for integration in a single strain. The variation in expression level at the different loci serves to high...