Natasha G. Caminsky

TL;DR: A review of nearly 20 years of research on the applications of information theory to interpret coding and non-coding mutations that alter mRNA splicing in rare and common diseases offers guidelines for optimal use of IT software for interpretation of mRNA splice mutations.

TL;DR: Information theory (IT) is applied to predict and prioritize noncoding variants of uncertain significance in regulatory, coding, and intronic regions based on changes in binding sites in these genes.

TL;DR: A strategy for complete gene sequence analysis followed by a unified framework for interpreting non-coding variants that may affect gene expression is presented and large numbers of variants detected by NGS are distilled to a limited set of variants prioritized as potential deleterious changes.

TL;DR: A prototype software system with sufficient capacity and speed to estimate radiation exposures in a mass casualty event by counting dicentric chromosomes (DCs) in metaphase cells from many individuals is presented.

TL;DR: This approach distills large numbers of variants detected by NGS to a limited set of variants prioritized as potential deleterious changes and presents a strategy for complete gene sequence analysis followed by a unified framework for interpreting non-coding variants that may affect gene expression.