This research provides a comprehensive analysis of deleterious mutations in pear (Pyrus spp.) during domestication, shedding ...

Using cortical organoids from individuals with autism, researchers tracked gene activity over development. Early ...

In mantle cell lymphoma (MCL), an aggressive form of B-cell non-Hodgkin lymphoma, TP53 mutations are known to affect patients’ prognosis—but questions remain. What does the heterogeneity of TP53 ...

Using sequencing instruments from multiple vendors, scientists from the University of Utah Health, the University of Washington, PacBio, and elsewhere have developed what they claim is the most ...

A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...

Targeted resequencing of DNA allows researchers to focus on genes of interest for cost-effective analysis of genetic variations. Typically, to analyze single nucleotide mutations and copy number ...

Santhosh Girirajan receives funding from the National Institutes of Health. Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...