AIMC Topic: Polymorphism, Single Nucleotide

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Discrimination of driver and passenger mutations in epidermal growth factor receptor in cancer.

Mutation research
Cancer is one of the most life-threatening diseases and mutations in several genes are the vital cause in tumorigenesis. Protein kinases play essential roles in cancer progression and specifically, epidermal growth factor receptor (EGFR) is an import...

Machine learning approach for pooled DNA sample calibration.

BMC bioinformatics
BACKGROUND: Despite ongoing reduction in genotyping costs, genomic studies involving large numbers of species with low economic value (such as Black Tiger prawns) remain cost prohibitive. In this scenario DNA pooling is an attractive option to reduce...

An efficiency analysis of high-order combinations of gene-gene interactions using multifactor-dimensionality reduction.

BMC genomics
BACKGROUND: Multifactor dimensionality reduction (MDR) is widely used to analyze interactions of genes to determine the complex relationship between diseases and polymorphisms in humans. However, the astronomical number of high-order combinations mak...

MIMP: predicting the impact of mutations on kinase-substrate phosphorylation.

Nature methods
Protein phosphorylation is important in cellular pathways and altered in disease. We developed MIMP (http://mimp.baderlab.org/), a machine learning method to predict the impact of missense single-nucleotide variants (SNVs) on kinase-substrate interac...

Application of neural networks with back-propagation to genome-enabled prediction of complex traits in Holstein-Friesian and German Fleckvieh cattle.

Genetics, selection, evolution : GSE
BACKGROUND: Recently, artificial neural networks (ANN) have been proposed as promising machines for marker-based genomic predictions of complex traits in animal and plant breeding. ANN are universal approximators of complex functions, that can captur...

Identification of active transcriptional regulatory elements from GRO-seq data.

Nature methods
Modifications to the global run-on and sequencing (GRO-seq) protocol that enrich for 5'-capped RNAs can be used to reveal active transcriptional regulatory elements (TREs) with high accuracy. Here, we introduce discriminative regulatory-element detec...

De novo transcriptome assembly of pummelo and molecular marker development.

PloS one
Pummelo (Citrus grandis) is an important fruit crop worldwide because of its nutritional value. To accelerate the pummelo breeding program, it is essential to obtain extensive genetic information and develop relative molecular markers. Here, we obtai...

Improved feature-based prediction of SNPs in human cytochrome P450 enzymes.

Interdisciplinary sciences, computational life sciences
Single nucleotide polymorphisms (SNPs) make up the most common form of mutations in human cytochrome P450 enzymes family, and have the potential to bring with different drug responses or specific diseases in individual patients. Here, based on machin...