AIMC Topic: Polymorphism, Single Nucleotide
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Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs.
Nature communications
Jun 7, 2021
The large majority of variants identified by GWAS are non-coding, motivating detailed characterization of the function of non-coding variants. Experimental methods to assess variants' effect on gene expressions in native chromatin context via direct ...
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA.
American journal of human genetics
Jun 1, 2021
Cupping of the optic nerve head, a highly heritable trait, is a hallmark of glaucomatous optic neuropathy. Two key parameters are vertical cup-to-disc ratio (VCDR) and vertical disc diameter (VDD). However, manual assessment often suffers from poor a...
Convolutional neural networks (CNNs): concepts and applications in pharmacogenomics.
Molecular diversity
May 24, 2021
Convolutional neural networks (CNNs) have been used to extract information from various datasets of different dimensions. This approach has led to accurate interpretations in several subfields of biological research, like pharmacogenomics, addressing...
Autosomal deletion/insertion polymorphisms for global stratification analyses and ancestry origin inferences of different continental populations by machine learning methods.
Electrophoresis
May 19, 2021
A lot of population data of 30 deletion/insertion polymorphisms (DIPs) of the Investigator DIPplex kit in different continental populations have been reported. Here, we assessed genetic distributions of these 30 DIPs in different continental populati...
Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
Scientific reports
May 19, 2021
Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severity. Howev...
Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study.
Scientific reports
May 13, 2021
Metabolic syndrome (MetS) is one of the most important risk factors for cardiovascular disease. The 11p23.3 chromosomal region plays a potential role in the pathogenesis of MetS. The present study aimed to assess the association between 18 single nuc...
Improving brain age estimates with deep learning leads to identification of novel genetic factors associated with brain aging.
Neurobiology of aging
Apr 20, 2021
To study genetic factors associated with brain aging, we first need to quantify brain aging. Statistical models have been created for estimating the apparent age of the brain, or predicted brain age (PBA), using imaging data. Recent studies have refi...
Machine learning, transcriptome, and genotyping chip analyses provide insights into SNP markers identifying flower color in Platycodon grandiflorus.
Scientific reports
Apr 13, 2021
Bellflower is an edible ornamental gardening plant in Asia. For predicting the flower color in bellflower plants, a transcriptome-wide approach based on machine learning, transcriptome, and genotyping chip analyses was used to identify SNP markers. S...
A Hybrid Supervised Approach to Human Population Identification Using Genomics Data.
IEEE/ACM transactions on computational biology and bioinformatics
Apr 6, 2021
Single nucleotide polymorphisms (SNPs) are one type of genetic variations and each SNP represents a difference in a single DNA building block, namely a nucleotide. Previous research demonstrated that SNPs can be used to identify the correct source po...
Pharmacokinetics of Eltrombopag in Healthy Chinese Subjects and Effect of Sex and Genetic Polymorphism on its Pharmacokinetic and Pharmacodynamic Variability.
European journal of drug metabolism and pharmacokinetics
Mar 29, 2021
BACKGROUND AND OBJECTIVE: Eltrombopag is the first oral, small-molecule, non-peptide thrombopoietin receptor agonist for the treatment of idiopathic thrombocytopenic purpura. This study investigated the pharmacokinetics of eltrombopag in healthy Chin...
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