AIMC Topic: Mutation

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Document triage for identifying protein-protein interactions affected by mutations: a neural network ensemble approach.

Database : the journal of biological databases and curation
The precision medicine (PM) initiative promises to identify individualized treatment depending on a patients' genetic profile and their related responses. In order to help health professionals and researchers in the PM endeavor, BioCreative VI organi...

An end-to-end deep learning architecture for extracting protein-protein interactions affected by genetic mutations.

Database : the journal of biological databases and curation
The BioCreative VI Track IV (mining protein interactions and mutations for precision medicine) challenge was organized in 2017 with the goal of applying biomedical text mining methods to support advancements in precision medicine approaches. As part ...

Hierarchical bi-directional attention-based RNNs for supporting document classification on protein-protein interactions affected by genetic mutations.

Database : the journal of biological databases and curation
In this paper, we describe a hierarchical bi-directional attention-based Re-current Neural Network (RNN) as a reusable sequence encoder architecture, which is used as sentence and document encoder for document classification. The sequence encoder is ...

A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation.

Journal of clinical lipidology
Apolipoprotein A-I deficiency is a rare metabolic disease characterized by an impaired reverse cholesterol transport system resulting in excessive cholesterol accumulation. Here, we discuss a case of apolipoprotein A-I deficiency caused by a carboxyl...

Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.

Gene
Non-syndromic stuttering is a neurodevelopmental disorder characterized by disruptions in normal flow of speech in the form of repetition, prolongation and involuntary halts. Previously, mutations with more severe effects on GNPTAB and GNPTG have bee...

Classifying cancer genome aberrations by their mutually exclusive effects on transcription.

BMC medical genomics
BACKGROUND: Malignant tumors are typically caused by a conglomeration of genomic aberrations-including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemotherapies and targeted drug trea...

A 29-gene and cytogenetic score for the prediction of resistance to induction treatment in acute myeloid leukemia.

Haematologica
Primary therapy resistance is a major problem in acute myeloid leukemia treatment. We set out to develop a powerful and robust predictor for therapy resistance for intensively treated adult patients. We used two large gene expression data sets (n=856...

Residual Convolutional Neural Network for the Determination of Status in Low- and High-Grade Gliomas from MR Imaging.

Clinical cancer research : an official journal of the American Association for Cancer Research
Isocitrate dehydrogenase () mutations in glioma patients confer longer survival and may guide treatment decision making. We aimed to predict the status of gliomas from MR imaging by applying a residual convolutional neural network to preoperative r...

MRI features predict p53 status in lower-grade gliomas via a machine-learning approach.

NeuroImage. Clinical
BACKGROUND: P53 mutation status is a pivotal biomarker for gliomas. Here, we developed a machine-learning model to predict p53 status in lower-grade gliomas based on radiomic features extracted from conventional magnetic resonance (MR) images.

Multi-label Inductive Matrix Completion for Joint MGMT and IDH1 Status Prediction for Glioma Patients.

Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention
MGMT promoter methylation and IDH1 mutation in high-grade gliomas (HGG) have proven to be the two important molecular indicators associated with better prognosis. Traditionally, the statuses of MGMT and IDH1 are obtained via surgical biopsy, which is...