Protein Structure, Transcriptomics, and Human Genetics

A set of vocabulary flashcards defining key concepts and technologies in structural bioinformatics, transcriptomics, and human genomics based on lecture notes.

Primary Structure

The linear sequence of amino acids in a protein.

Secondary Structure

Local folding patterns within a protein, such as $\alpha$-helices and $\beta$-sheets.

Tertiary Structure

The complete three-dimensional folding or shape of a single protein molecule or polypeptide chain.

Quaternary Structure

The arrangement and interaction of multiple polypeptide chains or protein subunits.

Protein Domain

A conserved structural or functional region of a protein.

Protein Motif

A short conserved sequence associated with a specific function.

Homology Modelling

A template-based method that predicts a protein's 3D structure using a closely related protein with a known structure.

Threading

A template-based method that predicts protein structure by fitting a sequence onto known structural folds.

Ab initio Prediction

Predicting protein structure using physical principles from its amino acid sequence without requiring a template.

AlphaFold

An AI-based system that predicts highly accurate protein structures from amino acid sequences.

Transcriptomics

The study of all RNA molecules expressed in a cell or organism.

Transcriptome

The complete set of RNA molecules expressed in a cell or organism.

Gene Expression

The process by which genetic information is used to produce RNA or protein.

RNA-Seq

A next-generation sequencing technique used to measure RNA abundance, gene expression, and detect novel transcripts.

Differential Gene Expression

The comparison of expression levels between samples to identify genes that are upregulated or downregulated.

Microarray

A technology that measures the expression of thousands of genes simultaneously relying on predefined probes.

Alternative Splicing

The biological process that produces multiple mRNA transcripts from a single gene.

Read Count

The number of sequencing reads mapped to a gene, which reflects its expression level.

Mutation

A permanent change in the DNA sequence.

Variant

A DNA sequence that differs from a reference sequence.

SNP (Single Nucleotide Polymorphism)

A common variation at a single nucleotide position in the genome.

GWAS (Genome-Wide Association Study)

Studies that identify genetic variants associated with particular traits or diseases by searching the genome of many individuals.

HGVS Nomenclature

A standardized system for describing genetic variants.

Genotype

The genetic makeup of an individual or organism.

Phenotype

The observable characteristics resulting from the interaction of an individual's genotype and its environment.

Precision Medicine

The tailoring of medical prevention or treatment using an individual's genetic information.