Management of mitochondrial-related heart disease relies on multidisciplinary care and symptom control, as targeted gene-editing therapies are limited.

Although whole-exome sequencing (WES) has its limitations, particularly with respect to secondary or incidental findings, it may still shine in routine clinical care, particularly if testing is ...

"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting of ...

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

Scientists at the Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein ...

Whole transcriptome analysis to reveal epithelial-mesenchymal transition after neoadjuvant therapy with or without additional anti-EGFR treatment: Subgroup analysis of esophageal squamous cell ...