In a recent article published in BMC Medical Genomics, researchers recruited a cohort of 25 Chinese genodermatoses patients to examine the genetic etiology by whole-exome sequencing (WES). They ...

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel ...

A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save ...

Indian researchers identify a novel USP18 gene mutation linked to pseudo-TORCH syndrome, aiding treatment for affected ...

Kosta, at 17 months old, experienced a serious developmental regression following a COVID-19 infection. He was diagnosed with cerebellar atrophy, a condition where the cerebellum (a part of the brain) ...

Benefits of dual whole exome sequencing and gene-specific deep sequencing approach: • Novel variant analysis - Recently discovered gene variants, usually not covered by gene panel testing (100-900 ...

Scientists at Brigham and Women's Hospital and Harvard Medical School have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism (XDP), a rare and disabling ...

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 ...