Abstract: A computer-implemented bioinformatics program annotates human genetic variants by integrating multiple sources of information. The program rapidly filters variants that are unlikely to play a role in the etiology of particular diseases. This filtering may be performed based on such annotations, on clinical profiles and family histories, and on analyses under various inheritance models, in order to classify human variants and identify mutations influencing patients' diseases.

Abstract: The present invention relates to the field of genetic screening. More specifically, the described embodiments concern methods to screen multiple samples, in a single assay, for the presence or absence of mutations or polymorphisms in a plurality of genes. Approaches to screen for the presence or absence of mutations that are associated with cystic fibrosis and approaches to design primers that generate extension products that facilitate the resolution of multiple extension products in a single lane of a gel or in a single run on a column are also provided.