Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

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 …

We now need more than ever to make genome analysis more intelligent. We need to read,
analyze, and interpret our genomes not only quickly, but also accurately and efficiently …

Objectives: To select, present, and summarize the most relevant papers published in 2018
and 2019 in the field of Ontologies and Knowledge Representation, with a particular focus …

There has in the past been controversy about the role of genetic testing in the inpatient
setting that has led to our current situation with usage of advanced sequencing in the …

Next generation sequencing based diagnosis has emerged as a promising tool for
evaluating critically ill neonates and children. However, there is limited data on its utility in …

The diagnosis and treatment of patients with hereditary diseases require the creation of
efficient methods for the study of individual genomes. The existing approaches either are …

Background Rapidly and efficiently identifying critically ill infants for whole genome
sequencing (WGS) is a costly and challenging task currently performed by scarce, highly …

Incorporating comprehensive genetic testing such as whole genome sequencing (WGS) into
the traditional diagnostic process allows clinical teams to understand a patient's disease at …

Nanopore sequencing generates noisy electrical signals that need to be converted into a
standard string of DNA nucleotide bases using a computational step called basecalling. The …