In the field of cancer genomics, the broad availability of genetic information offered by next-
generation sequencing technologies and rapid growth in biomedical publication has led to …

With the advent of novel sequencing technologies, interest in the identification of rare
variants that influence common traits has increased rapidly. Standard statistical methods …

Many high-throughput experimental technologies have been developed to assess the
effects of large numbers of mutations (variation) on phenotypes. However, designing …

2). For instance, in this setting with m= 10 and q= 10, IDA found 4, 4, 5, 1 and 2 true positives
for the five different networks, whereas Lasso found 1, 1, 0, 1 and 2 true positives and Elastic …

Free fatty acids provide an important energy source as nutrients, and act as signalling
molecules in various cellular processes,,,. Several G-protein-coupled receptors have been …

We present here a full update of the PMut predictor, active since 2005 and with a large
acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine …

The spike (S) glycoprotein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-
2) is responsible for the binding to the permissive cells. The receptor-binding domain (RBD) …

Background—Heritable and idiopathic pulmonary arterial hypertension (PAH) are
phenotypically identical and associated with mutations in several genes related to …

Each person's genome sequence has thousands of missense variants. Practical
interpretation of their functional significance must rely on computational inferences in the …

Training and testing of conventional machine learning models on binary classification
problems depend on the proportions of the two outcomes in the relevant data sets. This may …