The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

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 …

Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …

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 …

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

Purpose To assess the utility of integrating genomic data from next-generation sequencing
and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC). Design …

Introduction The ataxia-telangiectasia mutated (ATM) gene (MIM ID 208900) encodes a
protein kinase that plays a significant role in the activation of cellular responses to DNA …

Multiple algorithms are used to predict the impact of missense mutations on protein structure
and function using algorithm‐generated sequence alignments or manually curated …