Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Background: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants could be found in certain CA patients.

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.

Integrative Multi-Omics Approaches in Cancer Research: From Biological Networks to Clinical Subtypes.

Multi-omics approaches are novel frameworks that integrate multiple omics datasets generated from the same patients to better understand the molecular and clinical features of cancers. A wide range of emerging omics and multi-view clustering algorithms now provide unprecedented opportunities to further classify cancers into subtypes, improve the survival prediction and therapeutic outcome of these subtypes, and understand key pathophysiological processes through different molecular layers. In this review, we overview the concept and rationale of multi-omics approaches in cancer research.

Fermented Wild Ginseng by Improved l-Carnitine and Ginsenoside Contents.

We conducted this study to investigate the beneficial effects of fermentation of wild ginseng on ginsenosides, l-carnitine contents and its biological activity. The fermentation of wild ginseng was carried out at 30 °C for between 1 and 14 days. Fourteen ginsenosides and l-carnitine were analyzed in the fermented wild ginseng by the ultra high pressure liquid chromatography-mass spectrometry (UPLC-MS) system.

Brewing Rutin-Enriched Lager Beer with Buckwheat Malt as Adjuncts.

Brewing with buckwheat as an ingredient has been proven to be successful in several previous studies. However, few studies have focused on the effects of buckwheat on the rutin content and antioxidant activity of beer. In order to develop a lager beer with high rutin content and desirable sensory characteristics, tartary buckwheat malt was used as a brewing adjunct.

Anti-cariogenic Characteristics of Rubusoside.

Unlabelled: plays an important role in the development of dental caries in humans by synthesizing adhesive insoluble glucans from sucrose by mutansucrase activity. To explore the anti-cariogenic characteristics of rubusoside (Ru), a natural sweetener component in (Rosaceae), we investigated the inhibitory effect of Ru against the activity of mutansucrase and the growth of Ru (50 mM) showed 97% inhibitory activity against 0.1 U/mL mutansucrase of with 500 mM sucrose.