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Databases, Genetic

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Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.

Database : the journal of biological databases and curation
Genetic skeletal disorders (GSD) involving the skeletal system arises through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their clinical heterogeneity and genetic ...

Applying Cost-Sensitive Extreme Learning Machine and Dissimilarity Integration to Gene Expression Data Classification.

Computational intelligence and neuroscience
Embedding cost-sensitive factors into the classifiers increases the classification stability and reduces the classification costs for classifying high-scale, redundant, and imbalanced datasets, such as the gene expression data. In this study, we exte...

Identification of New Fungal Peroxisomal Matrix Proteins and Revision of the PTS1 Consensus.

Traffic (Copenhagen, Denmark)
The peroxisomal targeting signal type 1 (PTS1) is a seemingly simple peptide sequence at the C-terminal end of most peroxisomal matrix proteins. PTS1 can be described as a tripeptide with the consensus motif [S/A/C] [K/R/H] L. However, this descripti...

Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology.

BioMed research international
Increasing evidences indicated that function annotation of human genome in molecular level and phenotype level is very important for systematic analysis of genes. In this study, we presented a framework named Gene2Function to annotate Gene Reference ...

Mycofier: a new machine learning-based classifier for fungal ITS sequences.

BMC research notes
BACKGROUND: The taxonomic and phylogenetic classification based on sequence analysis of the ITS1 genomic region has become a crucial component of fungal ecology and diversity studies. Nowadays, there is no accurate alignment-free classification tool ...

MeSH-Informed Enrichment Analysis and MeSH-Guided Semantic Similarity Among Functional Terms and Gene Products in Chicken.

G3 (Bethesda, Md.)
Biomedical vocabularies and ontologies aid in recapitulating biological knowledge. The annotation of gene products is mainly accelerated by Gene Ontology (GO), and more recently by Medical Subject Headings (MeSH). Here, we report a suite of MeSH pack...

Gene-Disease Interaction Retrieval from Multiple Sources: A Network Based Method.

BioMed research international
The number of gene-related databases has been growing largely along with the research on genes of bioinformatics. Those databases are filled with various gene functions, pathways, interactions, and so forth, while much biomedical knowledge about huma...

Improve Biomedical Information Retrieval Using Modified Learning to Rank Methods.

IEEE/ACM transactions on computational biology and bioinformatics
In these years, the number of biomedical articles has increased exponentially, which becomes a problem for biologists to capture all the needed information manually. Information retrieval technologies, as the core of search engines, can deal with the...

FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation.

Journal of biomedical semantics
BACKGROUND: Nucleotide and protein sequence feature annotations are essential to understand biology on the genomic, transcriptomic, and proteomic level. Using Semantic Web technologies to query biological annotations, there was no standard that descr...

A knowledge base for tracking the impact of genomics on population health.

Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: We created an online knowledge base (the Public Health Genomics Knowledge Base (PHGKB)) to provide systematically curated and updated information that bridges population-based research on genomics with clinical and public health applications...