Translational Bioinformatics - Vocabulary Flashcards

Vocabulary flashcards covering key terms from the lecture notes.

Translational bioinformatics

A field that integrates molecular information (DNA, RNA, proteins, metabolites) with clinical data to improve patient care.

Bioinformatics

Informatics applied to cellular and molecular processes, especially genomics.

Genetics

Study of inheritance patterns and how traits are passed from one generation to the next.

Genome

The complete genetic material present in an organism.

Proteome

The full complement of proteins expressed by a genome, cell, tissue, or organism.

Transcriptome

The set of all RNA transcripts produced in a cell or organism.

Metabolome

All metabolites involved in metabolism within a biological system.

Phenome

The full set of observable traits or characteristics of an organism.

Interactome

The network of biomolecular interactions and pathways among proteins.

Microbiome

The community of microorganisms living in or on a host organism.

Exposome

All environmental exposures to which an organism has been subjected.

Bibliome

The body of scientific literature.

Computational biology

Use of computational methods to understand biological principles.

Biomarker

A measurable indicator of a biological state or condition used in diagnosis or prognosis.

Central Dogma

Classic idea of genetic information flow from DNA to RNA to protein; now viewed as more complex due to regulation and noncontiguous genes.

Precision medicine

Tailoring diagnosis and treatment to individuals based on genetic, biomarker, phenotypic, or psychosocial traits.

All of Us Research Program

NIH initiative to build a cohort of 1 million Americans with genotyping and clinical data.

Pembrolizumab

PD-1 inhibitor used across multiple cancers, often linked to tumors with DNA repair deficiencies.

Cancer Moonshot

Federal initiative to accelerate cancer research and improve prevention and early detection.

Phenotyping

Process of characterizing patients by observable traits; mainly via electronic health records.

Human Phenotype Ontology (HPO)

Ontology describing human phenotypic abnormalities to standardize terminology.

eMERGE

Consortium using electronic health records to discover genotype–phenotype associations.

Monogenic disorders

Disorders caused by variation in a single gene.

Complex genetic disorders

Diseases influenced by multiple genes, gene interactions, and environmental factors.

Pharmacogenomics

Study of how genetic variation affects drug response.

BCR-ABL (Philadelphia chromosome)

Fusion gene driving some leukemias; targeted by certain drugs.

Imatinib (Gleevec)

Targeted therapy that inhibits BCR-ABL in CML.

Gefitinib

EGFR inhibitor beneficial in select cancer patients with specific mutations.

Trastuzumab (Herceptin)

HER-2 targeted therapy for HER2-positive breast cancer.

ALK inhibitors

Drugs targeting ALK gene rearrangements in lung cancer.

RNA interference therapies

Gene-silencing treatments (e.g., Patisiran, Givosiran) that reduce disease-causing gene expression.

PharmGKB

Pharmacogenomics knowledgebase with pharmacogenetic associations.

Gene expression

Measurement of RNA expression levels, using microarrays or RNA-Seq.

GWAS

Genome-wide association studies linking genotype to phenotype on a large scale.

Polygenic risk scores

Scores estimating disease risk based on multiple genetic variants.

23andMe

Direct-to-consumer genetic testing company offering SNP-based reports.

Gene Ontology (GO)

Standardized vocabulary for gene function across species.

NHGRI-EBI Catalog

Catalog of published GWAS results.

PubMed

Database of biomedical literature abstracts and citations.

Monarch Initiative

Resource linking phenotypes and genotypes across species.