AIMC Topic: Mutation
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BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery.
Nucleic acids research
Jan 4, 2018
Single-nucleotide variation and gene expression of disease samples represent important resources for biomarker discovery. Many databases have been built to host and make available such data to the community, but these databases are frequently limited...
Numerical Models and In Vitro Assays to Study Odorant Receptors.
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2018
Unraveling the sense of smell relies on understanding how odorant receptors recognize odorant molecules. Given the vastness of the odorant chemical space and the complexity of the odorant receptor space, computational methods are in line to propose r...
Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.
Medicine
Dec 1, 2017
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma.
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
American journal of human genetics
Oct 5, 2017
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background nois...
A deep boosting based approach for capturing the sequence binding preferences of RNA-binding proteins from high-throughput CLIP-seq data.
Nucleic acids research
Aug 21, 2017
Characterizing the binding behaviors of RNA-binding proteins (RBPs) is important for understanding their functional roles in gene expression regulation. However, current high-throughput experimental methods for identifying RBP targets, such as CLIP-s...
nala: text mining natural language mutation mentions.
Bioinformatics (Oxford, England)
Jun 15, 2017
MOTIVATION: The extraction of sequence variants from the literature remains an important task. Existing methods primarily target standard (ST) mutation mentions (e.g. 'E6V'), leaving relevant mentions natural language (NL) largely untapped (e.g. 'glu...
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.
Nature genetics
Jan 31, 2017
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of inherited and somatic variants of all types. CIViC is committed to open-s...
A neural network prediction of environmental determinants of Anopheles sinensis knockdown resistance mutation to pyrethroids in China.
Journal of vector ecology : journal of the Society for Vector Ecology
Dec 1, 2016
Selection pressure caused by long-term intensive use of insecticides is the key driving force in resistance development. Additional parameters such as environmental conditions may affect both the mosquito response to insecticides and the selection of...
Optimization of the Production of Extracellular Polysaccharide from the Shiitake Medicinal Mushroom Lentinus edodes (Agaricomycetes) Using Mutation and a Genetic Algorithm-Coupled Artificial Neural Network (GA-ANN).
International journal of medicinal mushrooms
Jan 1, 2016
Exopolysaccharide (EPS) production by a strain of Lentinus edodes was studied via the effects of treatments with ultraviolet (UV) irradiation and acridine orange. Furthermore, optimization of EPS production was studied using a genetic algorithm coupl...
Long-term Virologic Suppression Despite Presence of Resistance-associated Mutations Among Perinatally HIV-infected Youth.
The Pediatric infectious disease journal
Dec 1, 2015
BACKGROUND: There is limited information on long-term consequences of continuing combination antiretroviral therapy (cART) consisting of <3 active drugs in treatment-experienced youth with perinatal HIV (PHIV). This study describes the clinical outco...
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