AIMC Topic: Mutation

Clear Filters Showing 711 to 720 of 726 articles

Enhancing fluorescent protein photostability through robot-assisted photobleaching.

Integrative biology : quantitative biosciences from nano to macro
Improving fluorescent proteins through the use of directed evolution requires robust techniques for screening large libraries of genetic variants. Here we describe an effective and relatively low-cost system for screening libraries of fluorescent pro...

Classifying tumors by supervised network propagation.

Bioinformatics (Oxford, England)
MOTIVATION: Network propagation has been widely used to aggregate and amplify the effects of tumor mutations using knowledge of molecular interaction networks. However, propagating mutations through interactions irrelevant to cancer leads to erosion ...

Orchid: a novel management, annotation and machine learning framework for analyzing cancer mutations.

Bioinformatics (Oxford, England)
MOTIVATION: As whole-genome tumor sequence and biological annotation datasets grow in size, number and content, there is an increasing basic science and clinical need for efficient and accurate data management and analysis software. With the emergenc...

BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery.

Nucleic acids research
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.)
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
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
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
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)
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
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...