More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Mounting evidence has highlighted the implementation of big data handling and
management in the healthcare industry to improve the clinical services. Various private and …

Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Data imbalance is frequently encountered in biomedical applications. Resampling
techniques can be used in binary classification to tackle this issue. However such solutions …

Gene expression in human tissue has primarily been studied on the transcriptional level,
largely neglecting translational regulation. Here, we analyze the translatomes of 80 human …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Despite three decades of successful, predominantly phenotype-driven discovery of the
genetic causes of monogenic disorders, up to half of children with severe developmental …

Accurate pathogenicity prediction of missense variants is critically important in genetic
studies and clinical diagnosis. Previously published prediction methods have facilitated the …