Focus on Inborn Errors of Immunity expands access to exome and genome testing for the known 200,000+ patients in the US 1 ...

Genetic testing platform PleSSision-Exome, a DNA sequencing system that covers more than 19,000 different genes, could help expand personalized cancer medicine in Japan. Developed by Hiroshi ...

To diagnose them, clinicians use a standard procedure known as exome sequencing. This involves analysing those segments of human DNA that are directly responsible for the correct formation of ...

Researchers studying over 2,000 Ashkenazi Jewish centenarians uncovered two rare IGF-1 gene variants linked to exceptional ...

"For too long parents of children with CP have unnecessarily carried guilt about birth trauma, but today we can leverage our expertise in exome and genome sequencing to provide critical genetic ...

The biomarker analysis found patients with certain mutations in the PI3K/AKT/mTOR pathway and MAPK pathway may be resistant to Truqap.

Immunodeficiency disorders linked to cytoskeleton defects are rare and complex, often presenting with diverse clinical features.

The paper details the methods and validation of Gradalis' exome sequencing procedure and associated bioinformatics pipeline for identifying signal patterns that drive cancer growth and spread. Titled ...

The optimising EXome PREnatal Sequencing Services (EXPRESS) policy report outlines actions to strengthen clinical implementation of, and further research on, prenatal exome sequencing services in the ...