BAFRegress

BAFRegress detects and estimates within-species DNA sample contamination from B allele frequency (BAF) data derived from Illumina genotyping arrays using a regression model.


Key Features:

  • Contamination detection and estimation: Identifies within-species DNA sample contamination and estimates contamination levels as low as 1%.
  • Regression model utilization: Applies a regression model to B allele frequency (BAF) data to produce quantitative contamination estimates.
  • Supported input data: Analyzes BAF from Illumina genotyping arrays and supports analysis of sequencing reads and array-based genotype data.
  • Pre-sequencing screening: Enables detection of contamination using array-based genotype data prior to sequencing to protect genotype accuracy.

Scientific Applications:

  • Genotype quality control: Detects contamination that can cause systematic genotype misclassification and false positive associations in genetic studies.
  • Pre-sequencing sample screening: Screens samples with array-based BAF data before sequencing to identify contaminated samples and reduce downstream sequencing costs.

Methodology:

Analyzes B allele frequency (BAF) data derived from Illumina genotyping arrays and applies a regression model to estimate contamination; it can also analyze sequencing reads and array-based genotype data to detect contamination prior to sequencing.

Topics

Details

Tool Type:
command-line tool
Operating Systems:
Linux
Programming Languages:
R, Python
Added:
8/3/2017
Last Updated:
11/25/2024

Operations

Publications

Jun G, Flickinger M, Hetrick KN, Romm JM, Doheny KF, Abecasis GR, Boehnke M, Kang HM. Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data. The American Journal of Human Genetics. 2012;91(5):839-848. doi:10.1016/j.ajhg.2012.09.004. PMID:23103226. PMCID:PMC3487130.

Documentation

Links