Both sequencing procedure and data processing includingin silicofiltering exactly confirmed the known mutations and CNV in the five genes leading to distinct phenotypes: ADP receptor defect (heterozygousP2YR12variant), leukocyte-adhesion deficiency type III (homozygousFERMT3variant),MYH9-related macrothrombocytopenia (heterozygousMYH9variant), TAR syndrome (hemizygousRBM8Anoncoding intron 1 single nucleotide polymorphism [SNP] and heterozygousRBM8Amicrodeletion), and Wiskott-Aldrich syndrome (hemizygousWASvariant), respectively (Supplementary Table S2). The gene discussed is P2RY1; the disease is Leukocyte adhesion deficiency type III.