Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

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 ...

The Diagnosis in Oncology article by van Rooij et al, entitled, "Tumor Exome Analysis Reveals Neoantigen-Specific T-Cell Reactivity in an Ipilimumab-Responsive Melanoma" (J Clin Oncol 10.1200/JCO.2012 ...

To address these limitations, we developed noninvasive prenatal screening using deep trio-exome sequencing; this comprehensive noninvasive method has high sensitivity for detecting fetal ...

BUFFALO, NY- February 14, 2024 – A new research paper was published in Oncotarget's Volume 15 on February 5, 2024, entitled, “Genetic and therapeutic landscapes in cohort of pancreatic adenocarcinomas ...

Amsterdam, November 15, 2023 – 5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

Combining expertise to advance precision medicine, while enabling efficient and timely insights into the diagnosis of rare diseases and hereditary cancer around the world SOUTH SAN FRANCISCO, Calif. & ...

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 ...