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Recognizes causative gene candidate using only two alleles of a male-sterile Drosophila locus. SnpSift can interpret weak single nucleotide polymorphisms (SNPs) such as those located in the 5’UTR or promoter regions. This strategy can be used to discover mutations that contain SNPs at regulatory regions of the genes, such as in many examples of population studies. This tool assists users to retrieve causative SNPs in mutants derived from random chemical mutagenesis screens.
A flexible tool for variant aggregation and summarization. A key goal is generality, that it may replace the ad hoc scripting often performed in the course of routine bioinformatic analyses of multiple samples. A flexible runtime and modular architecture ensure broad applicability: we have applied MuCor for its intended use by aggregating hundreds to thousands of cases, but also for novel uses, such as comparing different variant calling software pipelines or different sequencing platforms. By separating input parsers, the annotation and analysis core, and output reporting into distinct components, MuCor is modular and expandable through new input plugins, new annotations or auxiliary databases, and definition of new output report formats.
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