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 ...

Purpose: This study evaluates the efficacy of rapid clinical exome sequencing (CES) and mitochondrial DNA (mtDNA) sequencing for diagnosing genetic disorders in critically ill pediatric patients.

Methods: This study aimed to investigate the use of whole exome sequencing (WES) in diagnosing muscular disorders in pediatric patients in Taiwan. Out of 161 pediatric patients suspected to have ...

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

This Python package provides a comprehensive set of Python scripts for visualizing whole exome sequencing (WES) data. It allows to generate insightful charts and plots, including copy number variation ...

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 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.

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