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 …

The number of reported germline mutations in human nuclear genes, either underlying or
associated with inherited disease, has now exceeded 100,000 in more than 3,700 different …

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 …

Single nucleotide polymorphisms (SNPs) are the simplest and most frequent form of human
DNA variation, also valuable as genetic markers of disease susceptibility. The most …

Background SNPs&GO is a method for the prediction of deleterious Single Amino acid
Polymorphisms (SAPs) using protein functional annotation. In this work, we present the web …

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 …

More reliable and faster prediction methods are needed to interpret enormous amounts of
data generated by sequencing and genome projects. We have developed a new …

Motivation: Widespread availability of low-cost, full genome sequencing will introduce new
challenges for bioinformatics. Results: This review outlines recent developments in …

Background In recent years the number of human genetic variants deposited into the
publicly available databases has been increasing exponentially. The latest version of …

Many individually rare missense substitutions are encountered during deep resequencing of
candidate susceptibility genes and clinical mutation screening of known susceptibility …