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Databases, Genetic

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Representation learning of genomic sequence motifs with convolutional neural networks.

PLoS computational biology
Although convolutional neural networks (CNNs) have been applied to a variety of computational genomics problems, there remains a large gap in our understanding of how they build representations of regulatory genomic sequences. Here we perform systema...

Identification of distinct blood-based biomarkers in early stage of Parkinson's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Parkinson's disease (PD) is a slowly progressive geriatric disease, which can be one of the leading causes of serious socioeconomic burden in the aging society. Clinical trials suggest that prompt treatment of early-stage Parkinson's disease (EPD) ma...

A novel one-class classification approach to accurately predict disease-gene association in acute myeloid leukemia cancer.

PloS one
Disease causing gene identification is considered as an important step towards drug design and drug discovery. In disease gene identification and classification, the main aim is to identify disease genes while identifying non-disease genes are of les...

PharmVar GeneFocus: CYP2D6.

Clinical pharmacology and therapeutics
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism of numerous drugs and, thus, can impact drug efficacy and safety. This GeneFocu...

Improving reference prioritisation with PICO recognition.

BMC medical informatics and decision making
BACKGROUND: Machine learning can assist with multiple tasks during systematic reviews to facilitate the rapid retrieval of relevant references during screening and to identify and extract information relevant to the study characteristics, which inclu...

RNA secondary structure prediction using an ensemble of two-dimensional deep neural networks and transfer learning.

Nature communications
The majority of our human genome transcribes into noncoding RNAs with unknown structures and functions. Obtaining functional clues for noncoding RNAs requires accurate base-pairing or secondary-structure prediction. However, the performance of such p...

DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction.

Human mutation
Detecting epistatic interaction is a typical way of identifying the genetic susceptibility of complex diseases. Multifactor dimensionality reduction (MDR) is a decent solution for epistasis detection. Existing MDR-based methods still suffer from high...

ImaGene: a convolutional neural network to quantify natural selection from genomic data.

BMC bioinformatics
BACKGROUND: The genetic bases of many complex phenotypes are still largely unknown, mostly due to the polygenic nature of the traits and the small effect of each associated mutation. An alternative approach to classic association studies to determini...

Analyzing gene expression data for pediatric and adult cancer diagnosis using logic learning machine and standard supervised methods.

BMC bioinformatics
BACKGROUND: Logic Learning Machine (LLM) is an innovative method of supervised analysis capable of constructing models based on simple and intelligible rules. In this investigation the performance of LLM in classifying patients with cancer was evalua...