Categoría: Articulos

A research team led by Dr. Sheng Nengyin of the Kunming Institute of Zoology (KIZ) of the Chinese Academy of Sciences has reframed ZC4H2-associated rare disorder (ZARD)—a disorder marked by intellectual disability, developmental delays, muscle weakness…

WashU Medicine researchers have verified the accuracy of genetics tools to correctly identify all the rare DNA changes that make up an individual’s genomic mosaic, paving the way to understanding these variants’ impact on health and disease.

Using next-generation sequencing (NGS) to profile tumor cells from patients with solid tumors, researchers at Fondazione Policlinico Universitario A. Gemelli IRCCS identified genetic alterations associated with cancer predisposition in 10% of the subje…

The American Society of Hematology has developed new reference ranges for children and adults with Duffy-null status, a common genetic trait associated with naturally lower circulating white blood cell counts that affects more than 66% of people with A…

Scientists have carried out one of the largest experimental studies of breast cancer variants to date, helping pinpoint genetic changes that are most likely to contribute to the development of the disease.

Researchers at VIB and KU Leuven have uncovered how mutations in the ASPM gene disrupt the development of neural stem cells that help the human brain grow. This disruption explains how these mutations cause microcephaly, a condition characterized by an…

Rice University’s Han Xiao has used his AI-supported Sequence Display technology to expand the targeting abilities of CRISPR/Cas9. In a paper recently published in Nature Communications, Xiao evolved several variants of a compact Cas9 that could effici…