modSaRa

modSaRa detects chromosomal copy number variations (CNVs) in genomic data by identifying deletions and duplications using a change-point–based approach.

Key Features:

• Change-Point-Based Methodology: modSaRa employs a change-point based method that detects shifts in copy number states while balancing computational efficiency and accuracy for large genomic datasets.
• Integration of Preprocessing and CNV Calling: The package integrates preprocessing steps with the main CNV calling procedures to condition input data and generate final CNV calls.
• Implementation Languages: The software is implemented in R, C++, and Rcpp.

Scientific Applications:

• Cancer Genomics: Identification of CNVs relevant to cancer research.
• Genetic Disorder Research: Detection of CNVs associated with inherited genetic disorders.
• Evolutionary Biology: Analysis of CNV patterns in population and evolutionary studies.

Methodology:

modSaRa applies a change-point based algorithm to detect shifts in copy number states and includes preprocessing to condition input data for CNV calling.