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, ...

In today’s interconnected world, the spread of pathogenic microorganisms poses a significant challenge to global public health, economic stability, and ...

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 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 ...

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 ...

In a step toward treating mitochondrial diseases, researchers at the University Medical Center Utrecht and their colleagues have used mitochondrial base editing (mtBE) to successfully edit harmful ...

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 ...