AIMC Topic: Genotype

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Improving long QT syndrome diagnosis by a polynomial-based T-wave morphology characterization.

Heart rhythm
BACKGROUND: Diagnosing long QT syndrome (LQTS) remains challenging because of a considerable overlap in QT interval between patients with LQTS and healthy subjects. Characterizing T-wave morphology might improve LQTS diagnosis.

Deep Learning of Imaging Phenotype and Genotype for Predicting Overall Survival Time of Glioblastoma Patients.

IEEE transactions on medical imaging
Glioblastoma (GBM) is the most common and deadly malignant brain tumor. For personalized treatment, an accurate pre-operative prognosis for GBM patients is highly desired. Recently, many machine learning-based methods have been adopted to predict ove...

An improved fuzzy set-based multifactor dimensionality reduction for detecting epistasis.

Artificial intelligence in medicine
OBJECTIVE: Epistasis identification is critical for determining susceptibility to human genetic diseases. The rapid development of technology has enabled scalability to make multifactor dimensionality reduction (MDR) measurements an effective calcula...

Machine Learning Interpretation of Extended Human Papillomavirus Genotyping by Onclarity in an Asian Cervical Cancer Screening Population.

Journal of clinical microbiology
This study aimed (i) to compare the performance of the BD Onclarity human papillomavirus (HPV) assay with the Cobas HPV test in identifying cervical intraepithelial neoplasia 2/3 or above (CIN2/3+) in an Asian screening population and (ii) to explore...

Genetic Variation in Cytochrome P450 2R1 and Vitamin D Binding Protein Genes are associated with Vitamin D Deficiency in Adolescents.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
Genome Wide Association Studies (GWAS) have evaluated several genes related to vitamin D synthesis, metabolism and transport. They have proposed a genetic basis for low levels of vitamin D in the blood. The current study aims to investigate the rela...

Benchmarking Parametric and Machine Learning Models for Genomic Prediction of Complex Traits.

G3 (Bethesda, Md.)
The usefulness of genomic prediction in crop and livestock breeding programs has prompted efforts to develop new and improved genomic prediction algorithms, such as artificial neural networks and gradient tree boosting. However, the performance of th...

Dysmorphology in a Genomic Era.

Clinics in perinatology
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...

Forensic STR allele extraction using a machine learning paradigm.

Forensic science international. Genetics
We present a machine learning approach to short tandem repeat (STR) sequence detection and extraction from massively parallel sequencing data called Fragsifier. Using this approach, STRs are detected on each read by first locating the longest repeat ...

A machine learning approach for the identification of population-informative markers from high-throughput genotyping data: application to several pig breeds.

Animal : an international journal of animal bioscience
Single nucleotide polymorphisms (SNPs) able to describe population differences can be used for important applications in livestock, including breed assignment of individual animals, authentication of mono-breed products and parentage verification amo...