Sureselect human all exon v5 utr

Exon capture was performed at the IntegraGen platform (Evry) for fetus probands and relatives using the SureSelect Human All Exon V5-UTR (Agilent Technologies) or the Twist Human Core Exome Enrichment System (Twist Bioscience). Followed by 100 base pair paired-end sequencing using an Illumina NovaSeq platform. Data analysis was performed with the IntegraGen in house bioinformatic pipeline. Sequence reads were aligned to the human genome reference GRCh38/hg38 using BWA. Variant calling for the identification of single nucleotide variations, and small insertions/deletions were performed via the Broad Institute’s GATK Haplotype Caller GVCF tool (GATK 3.8.1). Ensembl’s VEP (Variant Effect Predictor, release VEP 95.1) program was used to process variants for further annotations. Allele frequency annotations was based on gnomAD (version 2.1.1) and 1000Genomes datasets. PolyPhen-2 algorithm was used to predict deleteriousness of missense variants. Finally, we used CANOES for the detection of copy number variation in whole exome sequencing data (80 (link)).