Next-generation multigenome mapper, expanded ORA compression capability, and more Learn more Services Sequencing Services Microarray Services Proactive Instrument Monitoring Instrument Services & Training All Services Illumina Proactive Instrument Performance Service Our instrument performance service helps reduce...
Whole Exome sequencing services: Ion Torrent Certified Service Providers The Ion Torrent Certified Service Provider program is a global network of validated service providers that enable researchers in small- and medium-sized laboratories to get high-quality exome ...
Generate complete genome assemblies using long nanopore sequencing reads. Resolve structural variants, repeats, phasing, and base modifications.
The human genome project was a ground-breaking scientific endeavour that not only gave us a near complete map of our genetic code but also paved the way for new innovative sequencing technologies and computational methods that have enabled the clinical application of genomics [1,2,3,4]. While ...
Terms of reference highlight the clinical governance required to support the process and recommendations and actions from the regional meetings are communicated at a local level via committee members to service providers and lead executive. Results: Six regional committees have been established ...
Because aPPV and sensitivity are imperfectly captured by mean coverage, we suggest that clinical WES service providers should inform users as to the range of sensitivity and aPPV for different classes of variants across the sets of genes that are relevant to the particular clinical scenario, ...
Whole-genome sequencing (WGS) has the potential to capture all classes of genetic variation in one experiment; however, the diagnostic yield for mutation detection of WGS compared to CMA, and other tests, needs to be established. In a prospective study we utilised WGS and comprehensive medical ...
(SaaS) computation layer. The result is a fast, high-volume, and cost-sensitive sequencing solution. As evidence of the technology’s value, the company has hundreds of customers and the largest genomics service providers in the world partner with Gencove. For more info...
Service on Inborn Errors of Metabolism SNV: Single nucleotide variants US: United States WGS: Whole genome sequencing WHO: World Health Organization References Brasil. Ministério da Saúde. Diário Oficial da União. Portaria 199 de 30 de janeiro de 2014. Nguengang Wakap S, Lambert DM...
When the cost of whole-genome sequencing decreases, the whole-genome sequencing–first approach will be the best option to tend toward a unique diagnostic test. SUPPLEMENTARY MATERIAL Supplementary material is linked to the online version of the paper at http://www.nature.com/gim ACKNOWLEDGMENTS ...