Researchers discover a large number of clustered mutations in a single gene, TRIO, that disrupt the development of the brain’s connections and likely contribute to the development of autism-spectrum disorders. The scientists also find that a sister gene linked to schizophrenia, KALRN, is inactive in early brain development, but becomes active in adolescence.
A method to help determine whether certain hard-to-study mutations in the human genome, called short tandem repeats or microsatellites, are likely to be involved in harmful conditions has been created by a team of researchers.
A combination of whole exome sequencing, machine learning, and network analysis, has identified new, ultra-rare gene mutations within specific biological pathways that may contribute to eating disorders, according to a study.
Whole genome sequencing using long fragment read (LFR), a technology that can analyze the entire genomic content of small numbers of cells, detected potentially targetable mutations using only five circulating tumor cells (CTCs) in a patient with metastatic breast cancer.
Researchers have developed a new methodology for identifying disease-causing genetic mutations in the non-coding region of the genome. This portion of the genome has remained uninterpretable until now.
Hemiplegic cerebral palsy hampers movement in one side of a person’s body. In the first genetic study of its kind to exclusively focus on those with hemiplegic cerebral palsy, a group of researchers has investigated the genetic differences and hereditary factors involved in this neurodevelopmental condition.
Medical researchers offer evidence that it is forces of evolution driven by natural selection acting in the ecosystem of the body that, in the presence of tissue damage, allow cells with dangerous mutations to thrive.
Genetic mutations in BRCA1 and BRCA2 increase the risk of breast and ovarian cancer in Ashkenazi Jewish women. A new article pexamines the likelihood of carrying another cancer-predisposing mutation in BRCA1, BRCA2 or another breast cancer gene among women of Ashkenazi Jewish ancestry with breast cancer who do not carry one of the founder mutations.
Mutations that occur after conception play an important role in autism, suggests a new study of nearly 6,000 families, combining three genetic sequencing technologies.
Scientists have teamed up to evaluate the tools used to probe the cancer genome. Their work classifies and describes the strengths and weaknesses of more than 20 algorithms developed by independent research groups.