Phasing and imputation

LS Lorraine Southam
AG Arthur Gilly
DS Dániel Süveges
AF Aliki-Eleni Farmaki
JS Jeremy Schwartzentruber
IT Ioanna Tachmazidou
AM Angela Matchan
NR Nigel W. Rayner
ET Emmanouil Tsafantakis
MK Maria Karaleftheri
YX Yali Xue
GD George Dedoussis
EZ Eleftheria Zeggini
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Each cohort and array was phased and imputed separately (Fig. 1). Before phasing, variants were excluded that were duplicates, monomorphics, singleton variants, had poor intensity clustering, or had allelic differences between the array and reference panel. Samples not genotyped on both the OmniExpress and Exome chip arrays were excluded, as well as variants with MAF <5% genotyped on the OmniExpress. Samples were phased using SHAPEIT v2.r778 (ref. 33) and imputed using IMPUTE v2.3.1 (refs 33, 34). Following imputation, any variant with HWE P<1.00 × 10−4 or imputation information score <0.4 was excluded. There was good genotype concordance between the 249 overlapping samples in the imputed and WGS (Supplementary Note 3).

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