Bioinformatics flashcards

What is bioinformatics?

A field that combines biology, computer science, and information technology to analyze biological data.

What is functional annotation in genomics?

The process of assigning functions to genomic elements, often using computational and experimental methods.

What is the difference between structural and functional annotation?

Structural annotation refers to the location of elements in a genome, while functional annotation assigns specific functions to those elements.

What is the COL4A3 gene associated with?

COL4A3 is associated with type IV collagen, which is important in the structure of basement membranes and linked to Alport syndrome.

How does the Gene Ontology (GO) aid in gene product analysis?

GO provides a systematic vocabulary to describe gene functions, biological processes, and cellular components.

What type of data does the Gene Ontology (GO) cover?

GO covers molecular function, biological process, and cellular component.

What diseases are associated with COL4A3 variants?

COL4A3 variants are associated with Alport syndrome and certain forms of kidney disease.

What is the role of databases in bioinformatics?

Databases organize and standardize biological information, making it easier to analyze and retrieve data.

What does the term 'non-coding variants' refer to?

Variants in the genome that do not change the amino acid sequence of a protein but may still have functional implications.

What is the significance of the Goodpasture antigen?

It refers to a specific domain of COL4A3 that is targeted by autoantibodies in Goodpasture syndrome.

Why are curated biological databases important?

They provide reliable, standardized, and easily searchable information useful for computational analysis.

What are eQTLs?

Expression Quantitative Trait Loci are regions of the genome that influence the expression levels of genes.

What is the molecular function of collagen type IV?

It forms a structural meshwork in basement membranes, providing strength and filtering capabilities.

What resource would you use to find published papers on a specific gene?

You would use PubMed, which indexes scientific articles and papers in the field of biomedical research.

What is the purpose of the Genotype-Tissue Expression Portal (GTEx)?

GTEx provides data on gene expression across different tissues in the human body.

What type of data is collected in the GTEx study?

Data regarding gene expression levels and their variations across different human tissues.

What is structural annotation in the context of genomics?

It involves identifying the locations of genes and other functional elements in the genome.

How does pathophysiology relate to COL4A3?

Pathophysiological changes in COL4A3 may lead to diseases such as Alport syndrome, affecting kidney function.

What tool helps discover functional information about proteins?

UniProt is a comprehensive resource providing protein sequence and functional information.