Artificial intelligence in medical genomics
Tag: Medical genomics
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in <…
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of th…