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

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.

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 ...

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 ...

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 ...

The Association for Molecular Pathology (AMP) today published a report that explores specific considerations for a slice testing strategy for diagnostics, including gene selection, analytic ...

Arbor has an ongoing collaboration with the International Wheat Genome Sequencing Consortium (IWGSC), an international organization dedicated to developing a gold-standard reference genome for bread ...