Results 41 to 50 of about 2,438,030 (324)
Analysis of Genotype-Phenotype Association using Genomic Informational Field Theory (GIFT) [PDF]
arXiv, 2022 We show how field- and information theory can be used to quantify the relationship between genotype and phenotype in cases where phenotype is a continuous variable. Given a sample population of phenotype measurements, from various known genotypes, we show how the ordering of phenotype data can lead to quantification of the effect of genotype.
arxiv
Clinical Case Reports, 2021 The rare cisAB subgroups inherited from a single parent are characterized by the activities of dual A and B glycosyltransferases encoded by a gene on one chromosome.
Yanan Zhang, Nuochuan Wang, Yongji Tian
doaj +1 more source
Computable Phenotypes for Post-acute sequelae of SARS-CoV-2: A National COVID Cohort Collaborative Analysis [PDF]
arXiv, 2023 Post-acute sequelae of SARS-CoV-2 (PASC) is an increasingly recognized yet incompletely understood public health concern. Several studies have examined various ways to phenotype PASC to better characterize this heterogeneous condition. However, many gaps in PASC phenotyping research exist, including a lack of the following: 1) standardized definitions ...
arxiv
Implementation of Zebrafish Ontologies for Toxicology Screening
Frontiers in Toxicology, 2022 Toxicological evaluation of chemicals using early-life stage zebrafish (Danio rerio) involves the observation and recording of altered phenotypes. Substantial variability has been observed among researchers in phenotypes reported from similar studies, as
Anne E. Thessen +26 more
doaj +1 more source
Clinical and Translational Science, 2019 Translating CYP2D6 genotype to metabolizer phenotype is not standardized across clinical laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines, such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and ...
K. Caudle +11 more
semanticscholar +1 more source
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Nucleic Acids Res., 2018 The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world.
Sebastian Köhler +68 more
semanticscholar +1 more source
FEBS Letters, EarlyView.In vivo IL‐10 produced by tissue‐resident tolDC is involved in maintaining/inducing tolerance. Depending on the agent used for ex vivo tolDC generation, cells acquire common features but prime T cells towards anergy, FOXP3+ Tregs, or Tr1 cells according to the levels of IL‐10 produced. Ex vivo‐induced tolDC were administered to patients to re‐establish/
Konstantina Morali +3 more
wiley +1 more source
International Journal of Biomedical ImagingAngiography by means of micro–computed tomography (m-CT) is extensively used for the diagnosis of vasculature disorders. To establish a connection between m-CT images and genuine histopathology findings, we developed two novel titanium dioxide ...
Taku Goto +4 more
doaj +1 more source
Evolution of molecular phenotypes under stabilizing selection [PDF]
J. Stat. Mech. (2013) P01012, 2013 Molecular phenotypes are important links between genomic information and organismic functions, fitness, and evolution. Complex phenotypes, which are also called quantitative traits, often depend on multiple genomic loci. Their evolution builds on genome evolution in a complicated way, which involves selection, genetic drift, mutations and recombination.
arxiv +1 more source
CpG island methylator phenotype in colorectal cancer.
Proceedings of the National Academy of Sciences of the United States of America, 1999 Aberrant methylation of promoter region CpG islands is associated with transcriptional inactivation of tumor-suppressor genes in neoplasia. To understand global patterns of CpG island methylation in colorectal cancer, we have used a recently developed ...
M. Toyota +5 more
semanticscholar +1 more source