Artificial intelligence (AI) is the development of computer systems that are able to perform
tasks that normally require human intelligence. Advances in AI software and hardware …

Genomics is advancing towards data-driven science. Through the advent of high-throughput
data generating technologies in human genomics, we are overwhelmed with the heap of …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Individuals with ultrarare disorders pose a structural challenge for healthcare systems since
expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3 …

The amount of data collected and managed in (bio) medicine is ever-increasing. Thus, there
is a need to rapidly and efficiently collect, analyze, and characterize all this information …

The conventional drug discovery pipeline has proven to be unsustainable for rare diseases.
Herein, we discuss recent advances in biomedical knowledge mining applied to discovering …

The human face is one of the most visible features of our unique identity as individuals.
Interestingly, monozygotic twins share almost identical facial traits and the same DNA …

It's challenging work to identify disease-causing genes from the next-generation sequencing
(NGS) data of patients with Mendelian disorders. To improve this situation, researchers have …

Background Collectively, an estimated 5% of the population have a genetic disease. Many
of them feature characteristics that can be detected by facial phenoty**. Face2Gene …

Abstract Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.
3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial …