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Genotype

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Machine learning based disease prediction from genotype data.

Biological chemistry
Using results from genome-wide association studies for understanding complex traits is a current challenge. Here we review how genotype data can be used with different machine learning (ML) methods to predict phenotype occurrence and severity from ge...

Automated Detection and Diameter Estimation for Mouse Mesenteric Artery Using Semantic Segmentation.

Journal of vascular research
BACKGROUND: Pressurized myography is useful for the assessment of small artery structures and function. However, this procedure requires technical expertise for sample preparation and effort to choose an appropriate sized artery. In this study, we de...

Risk prediction for delayed clearance of high-dose methotrexate in pediatric hematological malignancies by machine learning.

International journal of hematology
This study aimed to establish a predictive model to identify children with hematologic malignancy at high risk for delayed clearance of high-dose methotrexate (HD-MTX) based on machine learning. A total of 205 patients were recruited. Five variables ...

Crop yield prediction integrating genotype and weather variables using deep learning.

PloS one
Accurate prediction of crop yield supported by scientific and domain-relevant insights, is useful to improve agricultural breeding, provide monitoring across diverse climatic conditions and thereby protect against climatic challenges to crop producti...

Detecting adaptive introgression in human evolution using convolutional neural networks.

eLife
Studies in a variety of species have shown evidence for positively selected variants introduced into a population via introgression from another, distantly related population-a process known as adaptive introgression. However, there are few explicit ...

Autosomal deletion/insertion polymorphisms for global stratification analyses and ancestry origin inferences of different continental populations by machine learning methods.

Electrophoresis
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...

A machine learning approach to screen for preclinical Alzheimer's disease.

Neurobiology of aging
Combining multimodal biomarkers could help in the early diagnosis of Alzheimer's disease (AD). We included 304 cognitively normal individuals from the INSIGHT-preAD cohort. Amyloid and neurodegeneration were assessed on F-florbetapir and F-fluorodeox...

The Translational Machine: A novel machine-learning approach to illuminate complex genetic architectures.

Genetic epidemiology
The Translational Machine (TM) is a machine learning (ML)-based analytic pipeline that translates genotypic/variant call data into biologically contextualized features that richly characterize complex variant architectures and permit greater interpre...

Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning.

Circulation. Genomic and precision medicine
BACKGROUND: Genetic testing can determine family screening strategies and has prognostic and diagnostic value in hypertrophic cardiomyopathy (HCM). However, it can also pose a significant psychosocial burden. Conventional scoring systems offer modest...

Protein design and variant prediction using autoregressive generative models.

Nature communications
The ability to design functional sequences and predict effects of variation is central to protein engineering and biotherapeutics. State-of-art computational methods rely on models that leverage evolutionary information but are inadequate for importa...