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Mutation

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Computational model for vitamin D deficiency using hair mineral analysis.

Computational biology and chemistry
Vitamin D deficiency is prevalent in the Arabian Gulf region, especially among women. Recent studies show that the vitamin D deficiency is associated with a mineral status of a patient. Therefore, it is important to assess the mineral status of the p...

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.

Genome medicine
BACKGROUND: A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same do...

Machine learning reveals a non-canonical mode of peptide binding to MHC class II molecules.

Immunology
MHC class II molecules play a fundamental role in the cellular immune system: they load short peptide fragments derived from extracellular proteins and present them on the cell surface. It is currently thought that the peptide binds lying more or les...

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.

Scientific reports
Disease and trait-associated variants represent a tiny minority of all known genetic variation, and therefore there is necessarily an imbalance between the small set of available disease-associated and the much larger set of non-deleterious genomic v...

SNPPhenA: a corpus for extracting ranked associations of single-nucleotide polymorphisms and phenotypes from literature.

Journal of biomedical semantics
BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are among the most important types of genetic variations influencing common diseases and phenotypes. Recently, some corpora and methods have been developed with the purpose of extracting mutations an...

An improved chaotic fruit fly optimization based on a mutation strategy for simultaneous feature selection and parameter optimization for SVM and its applications.

PloS one
This paper proposes a new support vector machine (SVM) optimization scheme based on an improved chaotic fly optimization algorithm (FOA) with a mutation strategy to simultaneously perform parameter setting turning for the SVM and feature selection. I...

The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

Leukemia
Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease features, treatment response and survival of AML patients, and are used to denote specific...

High-Throughput Robotically Assisted Isolation of Temperature-sensitive Lethal Mutants in Chlamydomonas reinhardtii.

Journal of visualized experiments : JoVE
Systematic identification and characterization of genetic perturbations have proven useful to decipher gene function and cellular pathways. However, the conventional approaches of permanent gene deletion cannot be applied to essential genes. We have ...

SNooPer: a machine learning-based method for somatic variant identification from low-pass next-generation sequencing.

BMC genomics
BACKGROUND: Next-generation sequencing (NGS) allows unbiased, in-depth interrogation of cancer genomes. Many somatic variant callers have been developed yet accurate ascertainment of somatic variants remains a considerable challenge as evidenced by t...