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Works (15)
Updated: April 22nd, 2024 07:45
2024 article
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis
Stonebraker, J., Pace, R., Gallins, P., Dang, H., Aksit, M., Faino, A., … Knowles, M. (2024, March 27). HEPATOLOGY, Vol. 3.
author keywords: MAIT cells; whole genome sequencing; GWAS; TWAS; CFLD
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(OpenAlex)
Sources: Web Of Science, ORCID
Added: April 15, 2024
2023 journal article
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 207(10), 1324–1333.
author keywords: cystic fibrosis; whole-genome sequencing; lung disease severity; GWAS/TWAS; pathway analyses
MeSH headings : Humans; Cystic Fibrosis / genetics; Genome-Wide Association Study / methods; Cystic Fibrosis Transmembrane Conductance Regulator / genetics; Patient Acuity; Lung; Microtubule-Associated Proteins / genetics
TL;DR:
This pre- modulator genomic, transcriptomic, and pathway association study of 7,840 pwCF will facilitate mechanistic and post-modulator genetic studies and, development of novel therapeutics for CF lung disease.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Sources: Web Of Science, ORCID
Added: May 16, 2023
2022 journal article
A Population-Based Human In Vitro Approach to Quantify Inter-Individual Variability in Responses to Chemical Mixtures
TOXICS, 10(8).
author keywords: population-wide; inter-individual variability; toxicodynamics; chemical mixtures; defined mixtures; human health risk assessment; uncertainty factors; genome-wide association study
TL;DR:
The data show that population variability of the mixtures is unlikely to exceed that of the most variable component, and that similarity in genome-wide associations among components may be used to accrue additional evidence for grouping of constituents in a mixture for cumulative assessments.
(via Semantic Scholar)
www.mdpi.com (publisher PDF)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
11. Sustainable Cities and Communities
(Web of Science)
Sources: Web Of Science, ORCID
Added: August 2, 2022
2022 journal article
A resource for integrated genomic analysis of the human liver
SCIENTIFIC REPORTS, 12(1).
MeSH headings : Bayes Theorem; Genome-Wide Association Study / methods; Genomics; Humans; Liver; Polymorphism, Single Nucleotide; Quantitative Trait Loci
TL;DR:
This study generated whole-transcriptome RNA-Seq from genotyped liver samples and used existing data from the GTEx Project and previous liver eQTL studies to create an enhanced transcriptomic sequence resource in the human liver, finding that MHC genes, and especially class II genes, are enriched for liver-specific eZTL patterns.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID
Added: September 8, 2022
2022 journal article
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies
AMERICAN JOURNAL OF HUMAN GENETICS, 109(9), 1638–1652.
MeSH headings : Anemia / drug therapy; Anemia / genetics; Coronary Artery Disease / genetics; Genome-Wide Association Study; Humans; Mendelian Randomization Analysis; Myocardial Infarction / genetics; Renal Insufficiency, Chronic / genetics
TL;DR:
A combination of genetic and functional studies provides a powerful approach to investigate the potential therapeutic profile of EPO-increasing therapies for treating anemia in CKD.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Source: Web Of Science
Added: November 21, 2022
2022 journal article
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients
HUMAN GENETICS AND GENOMICS ADVANCES, 3(2).
TL;DR:
It is demonstrated that despite having ∼3% the sample size of TOPMed, the CFGP reference panel can still outperform TOPMed when imputing some CF disease-causing variants, likely due to allele and haplotype differences between CF patients and general populations.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID
Added: May 10, 2022
2020 journal article
A New Liver Expression Quantitative Trait Locus Map From 1,183 Individuals Provides Evidence for Novel Expression Quantitative Trait Loci of Drug Response, Metabolic, and Sex-Biased Phenotypes
CLINICAL PHARMACOLOGY & THERAPEUTICS, 107(6), 1383–1393.
MeSH headings : Adolescent; Adult; Aged; Aged, 80 and over; Antineoplastic Agents / adverse effects; Antineoplastic Agents / pharmacology; Child; Child, Preschool; Female; Gene Expression Regulation / genetics; Genetic Variation; Genome-Wide Association Study; Genotype; Humans; Hypolipidemic Agents / pharmacology; Infant; Liver / metabolism; Male; Middle Aged; Phenotype; Proprotein Convertase 9 / genetics; Quantitative Trait Loci / genetics; Receptors, G-Protein-Coupled / genetics; Sex Factors; Young Adult
TL;DR:
Translational relevance of these results is evidenced by linking DPYD eQTLs to differences in safety of chemotherapy, linking the sex‐biased regulation of PCSK9 expression to anti‐lipid therapy, and identifying the G‐protein coupled receptor GPR180 as a novel drug target for hypertriglyceridemia.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Sources: Web Of Science, ORCID
Added: February 10, 2020
2020 journal article
Exploring the Limits of Combined Image/'omics Analysis for Non-cancer Histological Phenotypes
FRONTIERS IN GENETICS, 11.
author keywords: imaging; genomics; pathology; prediction; integration; histology; machine learning; embedding
TL;DR:
This study surveys the evidence for genomic association and prediction of histology, and uses the results to test the limits of prediction accuracy using machine learning methods applied to the imaging data, genomics data, and their combination.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID
Added: November 24, 2020
2019 review
A Review and Tutorial of Machine Learning Methods for Microbiome Host Trait Prediction
[Review of ]. FRONTIERS IN GENETICS, 10.
author keywords: disease; phenotype; modeling; machine learning; prediction
TL;DR:
The most commonly used machine learning methods are explored, and their prediction accuracy as applied to microbiome host trait prediction is evaluated.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID
Added: July 15, 2019
2018 journal article
A common allele in FGF21 associated with sugar intake is associated with body shape, lower total body-fat percentage, and higher blood pressure
Cell Reports, 23(2), 327–336.
Source: NC State University Libraries
Added: August 6, 2018
2018 journal article
A zero-inflated beta-binomial model for microbiome data analysis
STAT, 7(1).
author keywords: count data; penalized generalized linear model; zero-inflated beta-binomial modelling
TL;DR:
A zero‐inflated beta‐binomial is introduced to model the distribution of microbiome count data and to determine association with a continuous or categorical phenotype of interest and has higher power than competing methods to detect taxa associated with phenotype.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: August 6, 2018
2018 journal article
Airway mucosal host defense is key to genomic regulation of cystic fibrosis lung disease severity
American Journal of Respiratory and Critical Care Medicine, 197(1), 79–93.
Source: NC State University Libraries
Added: August 6, 2018
2016 journal article
Genomic Characterization of Metformin Hepatic Response
PLOS GENETICS, 12(11).
MeSH headings : AMP-Activated Protein Kinases / biosynthesis; AMP-Activated Protein Kinases / genetics; Activating Transcription Factor 3 / genetics; Adaptor Proteins, Signal Transducing / genetics; Ataxia Telangiectasia Mutated Proteins / biosynthesis; Ataxia Telangiectasia Mutated Proteins / genetics; DEAD-box RNA Helicases / genetics; Diabetes Mellitus, Type 2 / drug therapy; Diabetes Mellitus, Type 2 / genetics; Diabetes Mellitus, Type 2 / pathology; Enhancer Elements, Genetic; Gene Knockdown Techniques; Gluconeogenesis / genetics; Haplotypes; Hepatocytes / drug effects; Hepatocytes / metabolism; Humans; Linkage Disequilibrium; Liver / drug effects; Liver / metabolism; Metformin / adverse effects; Metformin / therapeutic use; Polymorphism, Single Nucleotide
TL;DR:
It is shown that activating transcription factor 3 (ATF3), the top metformin upregulated AMPK-dependent gene, could have an important role in gluconeogenesis repression and the findings provide a genome-wide representation of met formin hepatic response.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Source: Web Of Science
Added: August 6, 2018
2016 conference paper
Poster: risk-based attack surface approximation
Symposium and Bootcamp on the Science of Security, 121–123.
Source: NC State University Libraries
Added: August 6, 2018
2015 journal article
Population-Based in Vitro Hazard and Concentration-Response Assessment of Chemicals: The 1000 Genomes High-Throughput Screening Study
ENVIRONMENTAL HEALTH PERSPECTIVES, 123(5), 458–466.
MeSH headings : Cell Line, Tumor; Genome-Wide Association Study / methods; Genotype; Humans; Risk Assessment; Toxicity Tests / methods
TL;DR:
This experimental approach fills critical gaps unaddressed by recent large-scale toxicity testing programs, providing quantitative, experimentally based estimates of human toxicodynamic variability, and also testable hypotheses about mechanisms contributing to interindividual variation.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
11. Sustainable Cities and Communities
(Web of Science)
Source: Web Of Science
Added: August 6, 2018
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