CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies

BMC Bioinformatics

Table 1 Collapsing matrices

(A) Machine representation of the default collapsing matrix. (B) Interpretation of the default collapsing matrix. Coding of input genotype follows PLINK convention, 0 (binary 00) for homozygote of minor allele, 1 (binary 01) for missing, 2 (binary 10) for heterozygote, and 3 (binary 11) for homozygote of major allele. After collapsing, the output pseudo-genotype is either 0, 2 or missing. The collapsing matrix is customizable by users, for example , an alternative collapsing matrix (C and D) will produce different pseudo-genotypes with allele coding 0, 1, 2 or missing

ISSN: 1471-2105