News

Using exome sequencing to analyze copy number variants can increase diagnostic yield
Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are ...
The American Journal of Managed Care1d
Whole Exome Sequencing Identifies Distinct Profile of Transformed SCLC
Researchers hope that identifying the genomic alterations specific to transformed small cell lung cancer (SCLC) can help ...
Long-read genome sequencing: Transforming genetic diagnostics for rare diseases
Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a ...
Nature1y
A new whole-exome sequencing platform makes the case for broader precision cancer care
Genetic testing platform PleSSision-Exome, a DNA sequencing system that covers more ... In 2019, Japan’s healthcare system made its first major step towards financially supporting personalized ...
The Scientist8y
Exome Dataset Expands to Whole Genome
Already, the expansion from ExAC to gnomAD has demonstrated “the benefits of looking at whole-genome data in addition to exome-sequencing data,” MacArthur said, inviting meeting attendees to access ...