This important study introduces a new biology-informed strategy for deep learning models aiming to predict mutational effects in antibody sequences. It provides solid evidence that separating ...

Scientists at Mount Sinai have created an artificial intelligence system that can predict how likely rare genetic mutations are to actually cause disease. By combining machine learning with millions ...

Scientists from Mass General Brigham and the Broad Institute have been studying more effective ways of treating people living with Friedreich’s ataxia (FA). People with this rare and progressive ...

Aim This study aimed to identify the loci of gene mutations associated with high myopia, analyse the genetic mutation spectrum characteristics for early onset high myopia (eo-HM) and explore the ...

In a recent study published in Nature Genetics, a group of researchers advanced variant effect prediction across the human proteome by integrating deep evolutionary signals with human population ...

A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is testing popEVE in clinical settings to see if it can speed accurate diagnoses of ...

The top two seeds from last year's Eastern Conference will meet on Wednesday's NBA schedule as the Cleveland Cavaliers visit the Boston Celtics. Cleveland (3-1) had the East's best record at 64-18 a ...

BREAST CANCER SURGERY. ACCORDING TO A GENETIC COUNSELOR AT MERCY MEDICAL CENTER, YOUR CHANCE OF DEVELOPING BREAST CANCER WITHOUT A FAMILY HISTORY OR NO OTHER SPECIAL CIRCUMSTANCE IS ABOUT 12%. THE ...

Article subjects are automatically applied from the ACS Subject Taxonomy and describe the scientific concepts and themes of the article. To address these limitations, we develop DRP-PSM, a method that ...

Background and objectives: In current clinical practice, invasive methods such as biopsy are commonly used to obtain tumor tissues for epidermal growth factor receptor (EGFR) mutation detection in ...

A new approach to gene therapy for retinitis pigmentosa may help patients with advanced disease regain vision regardless of which genetic mutation is causing the condition. An optogenetic therapy ...