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, ...

A comprehensive assessment of scientific literature has uncovered empirical evidence that more than 58% of human diseases caused by pathogens, such as dengue, hepatitis, pneumonia, malaria, Zika and ...

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 ...

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 ...

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 ...

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 ...