paperKB
coga / coga-kb
Help
Sign in

Chunk #48 — Materials and Methods — Imputation of Genotypes

Source
Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.
Embedded
yes

Text

Genotypes were prephased with SHAPEIT2 (61), and missing genotypes were imputed with IMPUTE2 (62) in 5-Mb chunks against the 1000 Genomes reference panel (63). Summary statistics for each chunk were obtained using SNPTEST (https://mathgen.stats.ox.ac.uk/genetics_software/snptest/snptest.html), and sites with an information score of less than 0.9 or significant departure from Hardy-Weinberg equilibrium (P < 1 × 10−3) were excluded from further analysis. Genotype probabilities for all remaining sites were converted into dosage estimates and formatted for use with MatrixEQTL.