Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis. Historically, the visual evaluation ...

Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis. Historically, the visual evaluation ...

New AI algorithm accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome at scale for the first time Currently, only about 30% of rare disease patients ...

OTTAWA, Canada – [May 23, 2024] – Harnessing the power of artificial intelligence (AI), CHEO researchers have developed a groundbreaking search algorithm that identifies children and youth who may ...

Please provide your email address to receive an email when new articles are posted on . 83% of families had a genetic diagnosis of palmoplantar keratoderma (PPK). The most common genotype found in ...

The study shows that personalized medicine demands new competences that extend beyond traditional medical training.

For the last few years or so, the story in the artificial intelligence that was accepted without question was that all of the big names in the field needed more compute, more resources, more energy, ...

Although most cases of hypoparathyroidism (hypoPT) are secondary to surgery, a significant proportion (20% to 25%) are due to other etiologies, including autoimmune and genetic causes. Although most ...