ContamLD

ContamLD estimates autosomal contamination levels in ancient DNA (aDNA) samples by measuring linkage disequilibrium breakdown to distinguish authentic ancient haplotypes from contaminant DNA.


Key Features:

  • Linkage Disequilibrium Breakdown Analysis: Measures breakdown of linkage disequilibrium by detecting haplotypes uncorrelated with the ancient individual's haplotypes.
  • Accurate Estimation with Low Error Rates: Simulations demonstrate less than a 1.5% standard error when contamination is below 10%, given at least 500,000 sequences covering single nucleotide polymorphisms (SNPs).
  • Optimization for Ancient DNA: Leverages characteristic aDNA damage patterns to provide calibrated contamination estimates for ancient specimens.

Scientific Applications:

  • Paleogenomics: Assessing and quantifying autosomal contamination to improve reliability of ancient genome analyses.
  • Archaeogenetics: Enabling reconstruction of genetic histories from ancient specimens by reducing confounding modern DNA.
  • Evolutionary analyses: Supporting interpretation of evolutionary processes by providing precise contamination estimates for downstream analyses.

Methodology:

Analyzes haplotype correlations and deviations from expected linkage disequilibrium patterns in sequenced aDNA and quantifies contamination using statistical modeling and simulation-based calibration.

Topics

Details

License:
GPL-3.0
Tool Type:
command-line tool
Programming Languages:
R, Python, Shell
Added:
1/18/2021
Last Updated:
3/11/2021

Operations

Publications

Nakatsuka N, Harney É, Mallick S, Mah M, Patterson N, Reich D. ContamLD: Estimation of Ancient Nuclear DNA Contamination Using Breakdown of Linkage Disequilibrium. Unknown Journal. 2020. doi:10.1101/2020.02.06.938126.