Whole exome sequencing of a DNA sample  from a human with rare genetic disease
Genomic DNA was extracted from the blood of a patient. All exon regions of all human genes(~22,000) were captured by xGen Exome Research Panel v2. The captured regions of the genome were sequenced with Novaseq 6000. The raw genome sequencing data analysis, including alignment to the GRCh37/hg19 human reference genome, variant calling and annotation, was conducted with open-source bioinformatics tools and in-house software.