Human genetics research has discovered thousands of proteins associated with complex
and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian …

Long-read DNA sequencing technologies have been rapidly evolving in recent years, and
their ability to assess large and complex regions of the genome makes them ideal for clinical …

The genetic etiologies of more than half of rare diseases remain unknown. Standardized
genome sequencing and phenotyping of large patient cohorts provide an opportunity for …

Effective computer-aided or automated variant evaluations for monogenic diseases will
expedite clinical diagnostic and research efforts of known and novel disease-causing genes …

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

Oocyte maturation arrest is one of the important causes of female infertility, but the genetic
factors remain largely unknown. PABPC1L, a predominant poly (A)‐binding protein in …

Uncover cell composition, cellular spatial distribution, and cell-to-cell interactions in tissues
are significant for the understanding of physiological and pathological processes. Over the …

Liver diseases in pregnancy comprise both gestational liver disorders and acute and chronic
hepatic disorders occurring coincidentally in pregnancy. Whether related to pregnancy or …

Background Genomic DNA reference materials are widely recognized as essential for
ensuring data quality in omics research. However, relying solely on reference datasets to …

While common obesity accounts for an increasing global health burden, its monogenic forms
have taught us underlying mechanisms via more than 20 single-gene disorders. Among …