Imagine getting a positive result on a genetic test. The doctor tells you that you have a "pathogenic genetic variant," or a DNA sequence that is known to raise the chances for getting a disease like ...

The results of a large biobank study by Mount Sinai researchers could one day help clinicians better assess the true risk of disease associated with pathogenic variants. The study, headed by Ron Do, ...

Genome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA. Analyses were performed on 130 cancer susceptibility genes ...

Understanding these genetic variants discovered through sequencing efforts is key to further progress in clinical genetics. A recent study identified features linked with pathogenic and benign ...

Please provide your email address to receive an email when new articles are posted on . “Inherited predisposition to myeloid malignancies is more common than previously appreciated,” Fei Yang, MD, ...

A lack of diversity in large genomic studies presents a major challenge in understanding how pathogenic variants impact different populations. To address this problem and advance precision medicine ...

Symbiotic and pathogenic fungi that interact with plants are distantly related and don't share many genetic similarities. Comparing plant pathogenic fungi and plant symbiotic fungi, scientists at the ...

Researchers discovered that the chance a pathogenic genetic variant may actually cause a disease is relatively low - about 7 percent. They also found that some variants, such as those associated with ...