Somatic mosaicism is an important cause of disease, but mosaic and somatic variants are often challenging to detect because they exist in only a fraction of cells. To address the need for benchmarking subclonal variants in normal cell populations, we developed a benchmark containing mosaic variants in the Genome in a Bottle Consortium (GIAB) HG002 reference material DNA from a large batch of a normal lymphoblastoid cell line. First, we used a somatic variant caller with high coverage (300x) Illumina whole genome sequencing data from the Ashkenazi Jewish trio to detect variants in HG002 not detected in at least 5% of cells from the combined parental data.
View Article and Find Full Text PDFThe increasing need to understand and control the environmental impact of chemical processes has revealed the challenge in efficient evaluation of toxicity of the vast number of chemical compounds and their varying effects on biological systems. In this study, we introduce "Build-a-bio-Strip", a novel online service designed to carry out a quick initial analysis of the toxic impact of chemical processes. This platform enables users to automatically generate toxicity characteristics of chemical reactions using their own data on cytotoxicity or median lethal doses of the substances involved or computational predictions based on SMILES strings.
View Article and Find Full Text PDFEquilibrium and kinetic behavior of adsorption-induced deformation have attracted a lot of attention in the last few decades. The theoretical and experimental works cover activated carbons, coals, zeolites, glasses, etc. However, most of the theoretical works describe only the equilibrium part of the deformation process or focus on the time evolution of the adsorption process.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
October 2024