AIMC Topic: Polymorphism, Genetic

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Functional connectivity correlates of response inhibition impairment in anorexia nervosa.

Psychiatry research. Neuroimaging
Anorexia nervosa (AN) is a disorder characterized by high levels of cognitive control and behavioral perseveration. The present study aims at exploring inhibitory control abilities and their functional connectivity correlates in patients with AN. Inh...

Hierarchical boosting: a machine-learning framework to detect and classify hard selective sweeps in human populations.

Bioinformatics (Oxford, England)
MOTIVATION: Detecting positive selection in genomic regions is a recurrent topic in natural population genetic studies. However, there is little consistency among the regions detected in several genome-wide scans using different tests and/or populati...

Predicting Methylphenidate Response in ADHD Using Machine Learning Approaches.

The international journal of neuropsychopharmacology
BACKGROUND: There are no objective, biological markers that can robustly predict methylphenidate response in attention deficit hyperactivity disorder. This study aimed to examine whether applying machine learning approaches to pretreatment demographi...

Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification.

Nucleic acids research
Identifying functional variants underlying disease risk and adoption of personalized medicine are currently limited by the challenge of interpreting the functional consequences of genetic variants. Predicting the functional effects of disease-associa...

Using Machine Learning and Natural Language Processing to Review and Classify the Medical Literature on Cancer Susceptibility Genes.

JCO clinical cancer informatics
PURPOSE: The medical literature relevant to germline genetics is growing exponentially. Clinicians need tools that help to monitor and prioritize the literature to understand the clinical implications of pathogenic genetic variants. We developed and ...

Endometriosis Knowledgebase: a gene-based resource on endometriosis.

Database : the journal of biological databases and curation
Endometriosis is a complex, benign, estrogen-dependent gynecological disorder with an incidence of ~10% women in reproductive age. The implantation and growth of endometrial cells outside the uterus leads to the development of endometriosis. Endometr...

[HIGH FREQUENCY OF CYP2C19 ULTRARAPID METABOLIZERS IN RUSSIAN PATIENTS WITH PEPTIC ULCER].

Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology
INTRODUCTION: The main enzyme responsible for metabolism of proton pump inhibitors (PPI) is cytochrome P-4502C19 (CYP2C19). Among all CYP2C19 polymorphisms ulrarapid CYP2C19*17 allele plays an important role in clinical practice as in CYP2C19*17 alle...

Application of artificial neural networks to link genetic and environmental factors to DNA methylation in colorectal cancer.

Epigenomics
AIMS: We applied artificial neural networks (ANNs) to understand the connections among polymorphisms of genes involved in folate metabolism, clinico-pathological features and promoter methylation levels of MLH1, APC, CDKN2A(INK4A), MGMT and RASSF1A i...