Whole-exome sequencing
Whole-exome sequencing was outsourced to Sistemas GenĂ³micos (Valencia, Spain). The exome capture was performed using SureSelectXT Human All Exon V3 (51Mb, Agilent Technologies), and the library was sequenced on an Illumina HiSeq 2000 platform with paired-end reads of 101bp and a 50x average coverage depth. Reads were trimmed and subsequently aligned against the human reference genome version GRCh37/hg19 using the BWA software, followed by processing by Picard-tools and SAMtools. Variant calling was performed using a combination of two different algorithms (VarScan and GATK) and the identified variants were annotated and described according to the recommendations of the Human Genome Variation Society.