Rariant

Rariant identifies single nucleotide variants (SNVs) by comparing binomially distributed mismatch rates between matched high-throughput sequencing samples.

Key Features:

• Variant Detection: Identifies single nucleotide variants (SNVs) from sequencing data.
• Binomial Statistical Modelling: Models mismatch rates as binomial distributions to assess the significance of observed mismatches.
• Matched-Sample Comparison: Compares matched samples to distinguish true variants from background mismatch noise.
• Bioconductor Integration: Operates within the Bioconductor project to enable interoperability with other Bioconductor packages.

Scientific Applications:

• Genomics Research: Identification of SNVs to investigate genetic disorders and evolutionary biology.
• Molecular Biology: Analysis of high-throughput sequencing data to study gene function and regulation.

Methodology:

Model mismatch rates as binomial distributions and perform statistical comparisons of mismatch rates between matched samples to differentiate true SNVs from sequencing errors.