NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...

The advent of ultrahigh-throughput next-generation sequencing (NGS) offers an improved approach to endocrine molecular diagnostics. There are three basic paradigms in which this technology is usually ...

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...

The prenatal and newborn genetic testing market is expanding due to technological advancements in non-invasive methods, rising awareness of genetic disorders, and supportive policies. Key ...

Please provide your email address to receive an email when new articles are posted on . 85% of the patients with diagnosed or suspected community-acquired sepsis had undiagnosed genetic diseases.

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that ...

Researchers have discovered eight new genes associated with schizophrenia, in the largest exome-sequencing study of the disorder ever conducted. The breakthrough, made by scientists at the Centre for ...