MCPCA_PopGen

MCPCA_PopGen infers population structure from low-depth sequencing genotype dosages using optimized nonlinear transformations while accounting for genotype-calling uncertainty.


Key Features:

  • Nonlinear Dimension Reduction: Optimizes nonlinear transformations of genotype dosages to maximize the Ky Fan norm of the covariance matrix, capturing underlying population structure.
  • Incorporation of Uncertainty: Integrates genotype-calling uncertainty between heterozygotes and common homozygotes at loci with rare alleles.
  • Statistical Power Maintenance: Maintains robust statistical power in low-depth sequencing datasets by optimizing data transformations to reveal hidden population structures.

Scientific Applications:

  • Population genetics with low-depth sequencing: Inferring population structure in studies that leverage large sample sizes from low-depth sequencing.
  • Single-chromosome analyses: Recovering hidden population structure from single-chromosome data, as demonstrated on samples from two indigenous Siberian populations.
  • Human ancestry and migration studies: Investigating patterns of human ancestry and migration through inferred population structure.

Methodology:

Optimizes nonlinear transformations of genotype dosages to maximize the Ky Fan norm of the covariance matrix and incorporates genotype-calling uncertainty between heterozygotes and common homozygotes at loci with rare alleles.

Topics

Details

License:
Not licensed
Cost:
Free of charge
Tool Type:
command-line tool
Operating Systems:
Mac, Linux, Windows
Programming Languages:
Julia, R, C
Added:
11/6/2021
Last Updated:
11/6/2021

Operations

Publications

Zhang M, Liu Y, Zhou H, Watkins J, Zhou J. A novel nonlinear dimension reduction approach to infer population structure for low-coverage sequencing data. BMC Bioinformatics. 2021;22(1). doi:10.1186/s12859-021-04265-7. PMID:34174829. PMCID:PMC8236193.

PMID: 34174829
PMCID: PMC8236193
Funding: - National Institute of General Medical Sciences: GM053275 - National Human Genome Research Institute: HG006139 - National Institute of Diabetes and Digestive and Kidney Diseases: K01DK106116 - National Science Foundation: NSF1740858 - National Heart, Lung, and Blood Institute: R21HL150374 - Directorate for Mathematical and Physical Sciences: DMS-2054253

Links