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 …

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents
as a hypermetabolic response to potent volatile anesthetic gases such as halothane …

To the Editor: Identification of pathogenic DNA sequence alterations in patients with
inherited diseases is one of the main tasks of human genetics. Next-generation sequencing …

The effect of genetic mutation on phenotype is of significant interest in genetics. The type of
genetic mutation that causes a single amino acid substitution (AAS) in a protein sequence is …

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 …

Several large ongoing initiatives that profit from next-generation sequencing technologies
have driven—and in coming years will continue to drive—the emergence of long catalogs of …

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 …

Background The SQSTM1 gene encodes p62, a major pathologic protein involved in
neurodegeneration. Objective To examine whether SQSTM1 mutations contribute to familial …

Technological advances make it possible to use high-throughput sequencing as a primary
discovery tool of medical genetics, specifically for assaying rare variation. Still this approach …