98%
921
2 minutes
20
Summary: Integration of next generation sequencing data (NGS) across different research studies can improve the power of genetic association testing by increasing sample size and can obviate the need for sequencing controls. If differential genotype uncertainty across studies is not accounted for, combining datasets can produce spurious association results. We developed the Variant Integration Kit for NGS (VikNGS), a fast cross-platform software package, to enable aggregation of several datasets for rare and common variant genetic association analysis of quantitative and binary traits with covariate adjustment. VikNGS also includes a graphical user interface, power simulation functionality and data visualization tools.
Availability And Implementation: The VikNGS package can be downloaded at http://www.tcag.ca/tools/index.html.
Supplementary Information: Supplementary data are available at Bioinformatics online.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7703770 | PMC |
http://dx.doi.org/10.1093/bioinformatics/btz716 | DOI Listing |
J Am Chem Soc
September 2025
Department of Chemistry, Rice University, 6100 Main Street, Houston, Texas 77005, United States.
Genetic code expansion (GCE) technology has primarily been devoted to the introduction of noncanonical amino acids (ncAAs) into ribosomally synthesized proteins or peptides. Its potential for modifying nonribosomal natural products remains unexplored. In this study, we introduce a novel strategy that integrates GCE with the directed evolution of cyclodipeptide synthase (CDPS) to engineer a new class of CDPSs capable of biosynthesizing cyclodipeptides containing ncAAs.
View Article and Find Full Text PDFJ Am Chem Soc
September 2025
Department of Chemistry, Boston University, 590 Commonwealth Ave, Boston, Massachusetts 02215, United States.
The cytosolic iron-sulfur cluster assembly (CIA) targeting complex maturates over 30 cytosolic and nuclear Fe-S proteins, raising the question of how a single complex recognizes such a diverse set of clients. The discovery of a C-terminal targeting complex recognition (TCR) peptide in up to 25% of CIA clients provided a clue to substrate specificity, yet the molecular and energetic basis for this interaction remained unresolved. By integrating computational and biochemical approaches, we show that the TCR peptide binds a conserved interface between the Cia1 and Cia2 subunits of the targeting complex, even in the absence of the Fe-S cluster.
View Article and Find Full Text PDFPLoS Biol
September 2025
Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina, United States of America.
Tuberculosis (TB) outcomes vary widely, from asymptomatic infection to mortality, yet most animal models do not recapitulate human phenotypic and genotypic variation. The genetically diverse Collaborative Cross mouse panel models distinct facets of TB disease that occur in humans and allows identification of genomic loci underlying clinical outcomes. We previously mapped a TB susceptibility locus on mouse chromosome 2.
View Article and Find Full Text PDFIEEE Trans Pattern Anal Mach Intell
September 2025
Stochastic Kriging (SK) is a generalized variant of Gaussian process regression, and it is developed for dealing with non-i.i.d.
View Article and Find Full Text PDFmBio
September 2025
Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium.
Echinocandins, which target the fungal β-1,3-glucan synthase (Fks), are essential for treating invasive fungal infections, yet resistance is increasingly reported. While resistance typically arises through mutations in Fks hotspots, emerging evidence suggests a contributing role of changes in membrane sterol composition due to mutations. Here, we present a clinical case of () in which combined mutations in and , but not alone, appear to confer echinocandin resistance.
View Article and Find Full Text PDF