BACKGROUND: KMT2B-related dystonia is a childhood-onset movement disorder. This study investigated a novel KMT2B gene variant using whole exome sequencing (WES) and bioinformatics analysis, and expanded the known clinical spectrum of KMT2B-related dy...
Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society
Aug 11, 2025
Tumor mutation burden (TMB) is a crucial biomarker for predicting the response of lung cancer patients to immunotherapy. Traditionally, TMB is quantified through whole-exome sequencing (WES), but the high costs and time requirements of WES limit its ...
Moving from a one-size-fits-all to an individual approach in precision medicine requires a deeper understanding of disease molecular mechanisms. Especially in heterogeneous complex diseases such as inflammatory bowel disease (IBD), better molecular s...
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence ...
BACKGROUND: Osteosarcoma is the most common primary malignant bone tumor, with high invasiveness and metastatic potential and a poor prognosis in patients with metastatic cancer. Despite the rapid advancements in genomics in recent years that provide...
Effective clinical management of patients with cancer requires highly accurate diagnosis, precise therapy selection, and highly sensitive monitoring of disease burden. Caris Assure is a multifunctional blood-based assay that couples whole exome and w...
BACKGROUND: When genes are translated into proteins, mutations in the gene sequence can lead to changes in protein structure and function as well as in the interactions between proteins. These changes can disrupt cell function and contribute to the d...
BACKGROUND: Prostate cancer (PCa) in the transition zone (TZ) is uncommon and often poses challenges for early diagnosis, but its genomic determinants and therapeutic vulnerabilities remain poorly characterized.
BACKGROUND: Accurate prediction of copy number variations (CNVs) from targeted capture next-generation sequencing (NGS) data relies on effective normalization of read coverage profiles. The normalization process is particularly challenging due to hid...
Autism is a developmental disability. Research demonstrated that children with autism benefit from early diagnosis and early intervention. Genetic factors are considered major contributors to the development of autism. Machine learning (ML), includin...
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