AIMC Topic: Polymorphism, Single Nucleotide
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ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains.
Journal of human genetics
Feb 14, 2019
Standard clinical interpretation of DNA copy number variants (CNVs) identified by cytogenomic microarray involves examining protein-coding genes within the region and comparison to other CNVs. Emerging basic research suggests that CNVs can also exert...
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.
Genome biology
Feb 11, 2019
State-of-the-art methods assessing pathogenic non-coding variants have mostly been characterized on common disease-associated polymorphisms, yet with modest accuracy and strong positional biases. In this study, we curated 737 high-confidence pathogen...
Severe Dengue Prognosis Using Human Genome Data and Machine Learning.
IEEE transactions on bio-medical engineering
Feb 4, 2019
UNLABELLED: Dengue has become one of the most important worldwide arthropod-borne diseases. Dengue phenotypes are based on laboratorial and clinical exams, which are known to be inaccurate.
Attribute selection and model evaluation for the maternal and paternal imprinted genes in bovine (Bos Taurus) using supervised machine learning algorithms.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
Jan 29, 2019
Imprinted genes display biased expression of paternal and maternal alleles in mammals. They are marked through epigenetic process during gametogenesis. Characterization of imprinted genes has expanded our understanding of the regulation and function ...
A single nucleotide polymorphism panel for individual identification and ancestry assignment in Caucasians and four East and Southeast Asian populations using a machine learning classifier.
Forensic science, medicine, and pathology
Jan 16, 2019
Single nucleotide polymorphism (SNP) profiling is an effective means of individual identification and ancestry inferences in forensic genetics. This study established a SNP panel for the simultaneous individual identification and ancestry assignment ...
iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes.
BMC bioinformatics
Dec 28, 2018
BACKGROUND: A range of rare and common genetic variants have been discovered to be potentially associated with mental diseases, but many more have not been uncovered. Powerful integrative methods are needed to systematically prioritize both variants ...
Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft.
Genomics, proteomics & bioinformatics
Dec 19, 2018
The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate (NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and com...
Effect of inter-individual variability in human liver cytochrome P450 isozymes on cyclophosphamide-induced micronucleus formation.
Mutation research. Genetic toxicology and environmental mutagenesis
Dec 5, 2018
We investigated the relationship between metabolic activities of cytochrome P450 (CYP) isozymes present in microsomal fractions derived from the livers of 78 donors and micronucleus induction by cyclophosphamide (CPA). Consequently, a wide inter-indi...
Porcine single nucleotide polymorphisms and their functional effect: an update.
BMC research notes
Dec 4, 2018
OBJECTIVE: To aid in the development of a comprehensive list of functional variants in the swine genome, single nucleotide polymorphisms (SNP) were identified from whole genome sequence of 240 pigs. Interim data from 72 animals in this study was publ...
Deleterious Non-Synonymous Single Nucleotide Polymorphism Predictions on Human Transcription Factors.
IEEE/ACM transactions on computational biology and bioinformatics
Nov 21, 2018
Transcription factors (TFs) are the major components of human gene regulation. In particular, they bind onto specific DNA sequences and regulate neighborhood genes in different tissues at different developmental stages. Non-synonymous single nucleoti...
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