MrFAST

MrFAST maps short reads generated by the Illumina sequencing platform to reference genome assemblies and enables prediction and analysis of absolute copy-number variation in duplicated segments and genes.

Key Features:

• Illumina short-read mapping: Maps short reads produced by the Illumina platform to reference genome assemblies.
• Mapping efficiency: Provides fast processing speed and memory-efficient mapping of next-generation sequence reads.
• Copy-number variation (CNV) prediction: Predicts absolute copy-number variations within duplicated segments and genes and resolves structure, copy number, and sequence content of duplicated regions.
• Distinguishing highly identical genes: Differentiates between multiple copies of highly identical genes to assess gene content and functional constraints.

Scientific Applications:

• Gene innovation and phenotypic variation studies: Enables detailed mapping and analysis of duplicated regions to study their roles in gene innovation and phenotypic variation.
• Genomic research on human populations: Applied to human genomes to show that an average of 73-87 genes vary in copy number between any two individuals.
• Functional genomics insights: Facilitates correlation of genic differences with segmental duplications (odds ratio of 135; P < 2.2 x 10^(-16)).

Methodology:

Employs an algorithm that comprehensively maps next-generation sequence reads and facilitates high-precision prediction of copy-number variations.