Whole exome sequencing was performed on an Illumina NovaSeq6000 device (Illumina, San Diego, CA, USA). The library construction was done using the IDT xGen® Exome Research Panel v1.0 (Integrated DNA Technologies, Inc., Carolville, IA, USA) according to the manufacturer’s recommendations by pooling the DNA in batches of 8 samples for library capture. Due to the inadequate DNA integrity number (DIN), we had to adjust the DNA input for each sample. Instead of using 200 ng, we used the total available DNA for each sample. So, we ended up generating 11 pools with a starting amount ranging from 510–39 ng. The resulting 8 sample library pools were paired-end sequenced.
Whole exome sequencing quality control: An in-house developed pipline, called “megSAP” was used for data analysis (https://github.com/imgag/megSAP , vers. 0.1-484-g9ad29f4 and 0.1-614-g21d6cfe). In brief, sequencing reads were aligned to the human genome reference sequence (GRCh37) using BWA (vers. 0.7.15) [29 (link)]. Quality control parameters, like sample or data swaps as well as all meta data were collected during all analysis steps [30 (link)].
Whole exome sequencing quality control: An in-house developed pipline, called “megSAP” was used for data analysis (
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