Whole exome sequencing
Exome librairies were performed with the Twist Bioscience kits (Twist Human RefSeq Exome Kit, 36 Mb). Briefly, genomic DNA (500 ng) was sheared with an Ultrasonicator (Covaris). A total amount of 50ng of the fragmented and purified double strand DNA was used to prepare Twist Exome libraries as recommended by the manufacturer, but with no initial enzymatic shearing and using adaptators with Unique Molecular Identifier barcodes (IDT). Barcoded exome libraries were pooled and sequenced with the NovaSeq6000 system (Illumina), generating paired-end reads (100 bases + 100 bases).
SUB14941299
F12I7