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Phasing was performed with SHAPEIT2 (v2) and imputation was performed with Impute2 (v2.3) using the 1000 Genomes integrated variant data set version 3 as the reference panel.
Phasing was performed with PacBio long reads, Illumina short reads, 10X Genomics linked reads4 (30×), and reads from BACs representing a single haplotype (47×).
Experimental phasing was performed using PHASER EP from the CCP4 suite [44].
For rs9399137 rs9402685, digital-array phasing was performed in seven patients, for rs9402685 rs11759553 in thirteen patients.
Phasing was performed by the fastPHASE software [43] with K (number of haplotype clusters) tested from 10 to 24.
Initial phasing was performed by molecular replacement using the structure of the human Fab PDB entry 1AQK as template and using the software Phaser [21].
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Imputation of missing genotypes and haplotype phasing were performed with BEAGLE 3.3 (Browning and Browning 2009).
The film structural identification of phases was performed by X-ray diffractometry (XRD).
For that, an experimental campaign divided in two phases was performed.
Thus, structure solution of this phase was performed by only viable option – electron crystallography, specifically electron diffraction tomography.
The dimensionality reduction phase was performed by extracting the nonlinear principal components.
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