Long-read sequencing provides enough context that even closely related genes and pseudogenes can be distinguished from one another, and variants can be accurately phased into alleles.
The release came as the US Centers for Disease Control and Prevention recorded over 12 million reported cases of dengue in the Americas this year, close to triple last year’s total.
The companies, who partnered to bring Genomenon’s Cancer Knowledgebase or “CKB” (formerly Clinical Knowledgebase) of curated variants to users of Illumina’s Connected Insights interpretation platform, say these efforts will enable scientists to interpret more oncogenic variants in more populations.
Foundation Medicine recently announced a companion diagnostic partnership with Syndax Pharmaceuticals to identify AML patients with NPM1 mutations with comprehensive genomic profiling, which, if approved, could be the first NGS CDx test to detect genomic alterations in hematologic neoplasms.
Despite its potential, single-cell analysis poses significant throughput challenges in generating the vast datasets necessary for comprehensive biological study.
In this Q&A, Sonja Strunz, head of the regulatory affairs department at Limbus Medical Technologies in Germany, explains the classification of devices under IVDR and what it means for manufacturers, users, and patients.
In this interview, Kengo Takishima, president and chief executive officer of Baylor Genetics, discusses his company’s specialized expertise in precision diagnostics and the work underway to make tests like WGS accessible to all.
With advance planning and a diagnostics partner with demonstrated regulatory expertise, it is possible to navigate EU IVDR requirements with confidence and keep clinical trial timelines on track.
