WES of homo sapiens: 5-year-old male peripheral blood
Genomic DNA was extracted using QIAamp DNA Blood Mini Kit (QIAGEN, #51106). DNA libraries were sequenced using Illumina Novaseq 6000 platform with a 100  read depth, and then mapped to the reference human genome (UCSC GRCh38/hg38) using Burrows-Wheeler Aligner software. Functional annotation was performed using ANNOVAR based on public databases such as dbSNP, 1000 Genomes and Genome Aggregation Database (gnomAD).
SUB16119391
Proband_WES_01