Using unique data from five longitudinal UK birth cohorts, four distinct subsets of genetic variants were identified as differentially associated across wheezing phenotypes from infancy to adolescence with little evidence of genetic associations spanning across different phenotypes.
Valerie S Salazar, Luciane P Capelo ... Vicki Rosen
A periosteal Bmp2 signaling center couples bone length to bone width during development and must be reactivated by clinical bone anabolic therapies to reduce fracture risk and accelerate fracture repair.
Associations can be mapped using k-mer frequencies in sequencing reads without prior sequencing of a reference genome enabling detection of associations to variants of multiple types and outside of the reference.
The V600E mutation in BRAF is a cancer hot spot because it opens the activation segment through destabilization of autoinhibitory interactions, but it does not significantly impair folding of the inactive or active kinase domain.
Genetically determined type 2 diabetes (T2D) may not increase the risk of fracture, but managing T2D-related risk factors is crucial to prevent fracture in patients with T2D.
Integrating chromatin accessibility and gene expression data into context-specific regulatory networks can provide better regulatory categories for heritability enrichment and relevant tissue identification.
BADGERS, as a new powerful method for conducting polygenic score-based biobank-wide association scans, identified 48 significant associations for AD and 41 significant associations for a variety of AD endophenotypes.
The prediction accuracies of polygenic scores in humans vary depending on the characteristics of the samples, as well as based on the study design, within a single ancestry group.
