AIMC Topic: Genotyping Techniques

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A Cascaded Deep Convolutional Neural Network for Joint Segmentation and Genotype Prediction of Brainstem Gliomas.

IEEE transactions on bio-medical engineering
GOAL: Automatic segmentation of brainstem gliomas and prediction of genotype (H3 K27M) mutation status based on magnetic resonance (MR) images are crucial but challenging tasks for computer-aided diagnosis in neurosurgery. In this paper, we present a...

A genotypic method for determining HIV-2 coreceptor usage enables epidemiological studies and clinical decision support.

Retrovirology
BACKGROUND: CCR5-coreceptor antagonists can be used for treating HIV-2 infected individuals. Before initiating treatment with coreceptor antagonists, viral coreceptor usage should be determined to ensure that the virus can use only the CCR5 corecepto...

Predicting proprotein convertase subtilisin kexin type-9 loss of function mutations using plasma PCSK9 concentration.

Journal of clinical lipidology
BACKGROUND: Low plasma proprotein convertase subtilisin kexin type-9 (PCSK9) concentration has been associated with loss of function (LOF) PCSK9 mutations in several studies. However, the current standard for detection of these LOF mutations is throu...

Assessing and comparison of different machine learning methods in parent-offspring trios for genotype imputation.

Journal of theoretical biology
Genotype imputation is an important tool for prediction of unknown genotypes for both unrelated individuals and parent-offspring trios. Several imputation methods are available and can either employ universal machine learning methods, or deploy algor...

Automated Classification and Cluster Visualization of Genotypes Derived from High Resolution Melt Curves.

PloS one
INTRODUCTION: High Resolution Melting (HRM) following PCR has been used to identify DNA genotypes. Fluorescent dyes bounded to double strand DNA lose their fluorescence with increasing temperature, yielding different signatures for different genotype...

A Framework for Identifying Genotypic Information from Clinical Records: Exploiting Integrated Ontology Structures to Transfer Annotations between ICD Codes and Gene Ontologies.

IEEE/ACM transactions on computational biology and bioinformatics
Although some methods are proposed for automatic ontology generation, none of them address the issue of integrating large-scale heterogeneous biomedical ontologies. We propose a novel approach for integrating various types of ontologies efficiently a...

Characterizing root response phenotypes by neural network analysis.

Journal of experimental botany
Roots play an immediate role as the interface for water acquisition. To improve sustainability in low-water environments, breeders of major crops must therefore pay closer attention to advantageous root phenotypes; however, the complexity of root arc...

Hepatitis C Virus Saint Petersburg Variant Detection With Machine Learning Methods.

Journal of medical virology
Hepatitis C virus infection is a significant global health concern, affecting millions worldwide. Although direct-acting antivirals achieve over 90% success rate, treatment failures still occur, particularly when pan-genotypic DAAs are unavailable, a...

Noninvasive fetal genotyping using deep neural networks.

Briefings in bioinformatics
Circulating cell-free DNA (cfDNA) is a powerful diagnostics tool that is widely studied in the context of liquid biopsy in oncology and other fields. In obstetrics, maternal plasma cfDNA have already proven its utility, enabling noninvasive prenatal ...