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Genotype

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A genotype imputation method for de-identified haplotype reference information by using recurrent neural network.

PLoS computational biology
Genotype imputation estimates the genotypes of unobserved variants using the genotype data of other observed variants based on a collection of haplotypes for thousands of individuals, which is known as a haplotype reference panel. In general, more ac...

Combining mechanistic and machine learning models for predictive engineering and optimization of tryptophan metabolism.

Nature communications
Through advanced mechanistic modeling and the generation of large high-quality datasets, machine learning is becoming an integral part of understanding and engineering living systems. Here we show that mechanistic and machine learning models can be c...

Viral pandemic preparedness: A pluripotent stem cell-based machine-learning platform for simulating SARS-CoV-2 infection to enable drug discovery and repurposing.

Stem cells translational medicine
Infection with the SARS-CoV-2 virus has rapidly become a global pandemic for which we were not prepared. Several clinical trials using previously approved drugs and drug combinations are urgently under way to improve the current situation. A vaccine ...

Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning.

Ophthalmology
PURPOSE: Current prediction models for advanced age-related macular degeneration (AMD) are based on a restrictive set of risk factors. The objective of this study was to develop a comprehensive prediction model applying a machine learning algorithm a...

Relation of vitamin D and BsmI variant with temporomandibular diseases in the Turkish population.

The British journal of oral & maxillofacial surgery
Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VD...

A machine learning framework for genotyping the structural variations with copy number variant.

BMC medical genomics
BACKGROUND: Genotyping of structural variation is an important computational problem in next generation sequence data analysis. However, in cancer genomes, the copy number variant(CNV) often coexists with other types of structural variations which si...

An enhanced machine learning tool for cis-eQTL mapping with regularization and confounder adjustments.

Genetic epidemiology
Many expression quantitative trait loci (eQTL) studies have been conducted to investigate the biological effects of variants in gene regulation. However, these eQTL studies may suffer from low or moderate statistical power and overly conservative fal...

Morphological traits of drought tolerant horse gram germplasm: classification through machine learning.

Journal of the science of food and agriculture
BACKGROUND: Horse gram (Macrotyloma uniflorum (Lam.) Verdc.) is an underutilized pulse crop with good drought resistance traits. It is a rich source of protein. Conventional breeding methods for high yielding and abiotic stress tolerant germplasm are...

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.

Genes
Amyotrophic lateral sclerosis is a neurodegenerative disease of the upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two to five years of first symptoms. Several rare disruptive gene variants h...

Machine learning-based analyses support the existence of species complexes for and .

Parasitology
Human strongyloidiasis is a serious disease mostly attributable to Strongyloides stercoralis and to a lesser extent Strongyloides fuelleborni, a parasite mainly of non-human primates. The role of animals as reservoirs of human-infecting Strongyloides...