Breast Neoplasms study with SNP Genotypes (NGS), WXS data on dbGaP (20 participants)

phs000601 — Identifying the Genetic Explanation for Heritable Breast Cancer

<p>The project developed a suite of new methods (FAVR) designed to assist the shortlisting of genetic variants under a rare variant-phenotype/disease model. The methods were designed to work with commonly used massively parallel sequencing analysis pipelines, such as the GATK or ANNOVAR, and have been made publically available as a suite of software tools (<a href="https://github.com/bjpop/favr">https://github.com/bjpop/favr</a>). The FAVR methods use signatures in comparator sequence alignment files to facilitate the filtering of mapping artifacts and common genetic variants, and annotation of genetic variants based on evidence of co-occurrence in individuals. As relevant, FAVR methods can also be used to filter out artifacts derived from imbalanced paired-end sequencing.</p> <p>Pope et al., BMC Bioinformatics, accepted Dec 2012.</p>