ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.

摘要: Background We recently described Hi-Plex, a highly multiplexed PCR-based target-enrichment system for massively parallel sequencing (MPS), which allows the uniform definition of library size so that subsequent paired-end can achieve complete overlap read pairs. Variant calling from Hi-Plex-derived datasets thus rely on identification variants appearing in both reads read-pairs, permitting stringent filtering chemistry-induced errors. These principles underly ROVER software (derived Read Overlap PCR-MPS variant caller), we have used to report screening genetic mutations breast cancer predisposition gene PALB2. Here, describe algorithms underlying and its usage.