female peripheral venous blood
Genomic DNA was extracted from peripheral blood using the QIAamp DNA Blood Maxi Kit (Germany). Qualified libraries were subjected to high-throughput sequencing on the Illumina HiSeq4000 platform. Valid sequencing data that passed quality control checks were compared to the human reference genome (hg19). Variant detection was performed using GATK3.4 software. ANNOVAR software annotated the variant sites and screened for possible causative genes or variant sites. Recently reported mutation sites were analyzed using the HGMD, 1000 Genomes Project, and dbSNP databases to confirm whether the identified mutations were new mutations, reported mutation sites, or single nucleotide polymorphisms (SNPs).