Genetic mutations cause hundreds of unsolved and untreatable disorders. Among them, DNA mutations in a small percentage of cells, called mosaic mutations, are extremely difficult to detect because they exist in a tiny percentage of the cells.

Current DNA mutation software detectors, while scanning the 3 billion bases of the human genome, are not well suited to discern mosaic mutations hiding among normal DNA sequences.

A study led by Regenstrief Institute Research Scientist Titus K. Schleyer, DMD, PhD, is among the first to survey the current landscape of FHIR® apps, providing a snapshot of how the innovative standard is used to enable the flow of health information. FHIR apps can pull in data from most electronic health record systems, facilitating secure movement of information when and where needed.

A team led by UCL and UCLH researchers have mapped the parts of the brain that support our ability to solve problems without prior experience - otherwise known as fluid intelligence.

Fluid intelligence is arguably the defining feature of human cognition. It predicts educational and professional success, social mobility, health, and longevity. It also correlates with many cognitive abilities such as memory.

Young people may not be receiving the mental health support they need because of a lack of trust in the smartphone apps that deliver such services, a study suggests.

Questions about the effectiveness of apps or online resources in managing mental health are also preventing young people from engaging with them, experts say.

Rising to meet the formidable challenge of the timely diagnosis of dementia, research scientists from Regenstrief Institute, IUPUI and the medical schools of Indiana University and University of Miami are conducting the Digital Detection of Dementia study, a real-world evaluation of the use of an artificial intelligence (AI) tool they developed for early identification of Alzheimer's disease and related dementias in primary care, the setting where most adults receive healthcare.

Researchers have used virtual reality games, eye tracking and machine learning to show that differences in eye movements can be used to detect ADHD, potentially providing a tool for more precise diagnosis of attention deficits. Their approach could also be used as the basis for an ADHD therapy, and with some modifications, to assess other conditions, such as autism.

When a patient undergoes a surgical operation to remove a tumor or treat a disease, the course of surgery is often not predetermined. To decide how much tissue needs to be removed, surgeons must know more about the condition they are treating, including a tumor's margins, its stage and whether a lesion is malignant or benign - determinations that often hinge upon collecting, analyzing, and diagnosing a disease while the patient is on the operating table.