RBM20 truncating variants ( RBM20 tvs) appear to contribute to arrhythmogenic dilated cardiomyopathy (DCM) but with ...

Hundreds of thousands of people diagnosed with cancer are still alive today but were never genetically tested, either because testing was not available or was not routinely offered at the time of ...

Please provide your email address to receive an email when new articles are posted on . Prevalence of pathogenic variants in cancer-susceptibility genes appeared independent of personal or family ...

Leveraging high variant allele frequencies (VAF) of DNA damage repair (DDR) mutations (muts) in liquid biopsy (LBx) as a surrogate for germline testing: Implications for precision medicine. Estimated ...

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...

Microsatellite Peak Shifts in Polymerase Chain Reaction-Based Fragment Length Data Correlate With Microsatellite Instability Degree and Vary With Mismatch Repair Gene Defects and Tumor Size This was a ...

About The Study: This study identified 5.05% of individuals carrying pathogenic or likely pathogenic variants, suggesting a higher-than-expected prevalence of key cancer susceptibility genes in a ...

Malaria is one of the most dangerous infectious diseases. The causative pathogens are microorganisms of the genus Plasmodium. A particularly dangerous form of the disease is caused by Plasmodium ...

A new risk model proves to be effective at identifying the risk for a rare genetic condition that increases predisposition for cancer.

New research from UNC Charlotte's Center for Computational Intelligence to Predict Health and Environmental Risks (CIPHER) has found that the two recent and prevalent strains of the virus that cause ...