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.