Introduction Recurrent pregnancy loss (RPL) occurred in ~1-2% of reproductive women. Previous studies have implicated that altered expression and polymorphisms interleukin-related genes might be involved RPL. The aim this study was to explore the potential presence interleukin-22 receptor subunit alpha-2 (IL22RA2) mutations Han Chinese women with unexplained recurrent (URPL). Material methods A...

Next generation sequencing (NGS) has been leading the genetic study of human disease into an era of unprecedented productivity. Many bioinformatics pipelines have been developed to call variants from NGS data. The performance of these pipelines depends crucially on the variant caller used and on the calling strategies implemented. We studied the performance of four prevailing callers, SAMtools,...

BACKGROUND The genetic variation underlying many heritable forms of cardiovascular disease is incompletely understood, even in patients with strong family history or early age at onset. METHODS AND RESULTS We used whole exome sequencing to detect pathogenic variants in 55 patients with suspected monogenic forms of cardiovascular disease. Diagnostic analysis of established disease genes identi...

Schizophrenia (SCZ) is a serious psychiatric disease with strong heritability. Its complexity is reflected by extensive genetic heterogeneity and much of the genetic liability remains unaccounted for. We applied a combined strategy involving detection of copy number variants (CNVs), whole-genome mapping, and exome sequencing to identify the genetic basis of autosomal-dominant SCZ in a Chinese f...

Summary Carrier screening (CS) is an approach to pre-reproductive identification of couples at risk having offspring with a single-gene disorder (SGD). The goal CS facilitate reproductive autonomy and informed decision-making the revealed couples. Initially, was introduced in 1970s among Ashkenazi Jewish population USA high incidence Tay-Sachs disease. Until recently, had limited application, m...