*4.2. Panel Sequencing—Evaluation Phase*

Blood samples were collected during the diagnostic procedures using tubes with K3EDTA anticoagulant and genomic DNA was isolated from human peripheral blood lymphocytes by the standard phenol/chloroform extraction and ethanol precipitation.

In the evaluation phase, raw data for 48 ABC transporter genes and one pseudogene were extracted from the previously published study [13]. Briefly, reads were mapped on reference sequence hg19 using Burrows-Wheeler Alignment (BWA) mem [44], base and indel recalibration and short indels and SNVs discovery was done in the Genome Analysis Toolkit (GATK) [45] and annotation of variants was done using Annovar [46] (for details of the library preparation, target enrichment, data processing, and variant calling, see [13]).
