434 Peters Defs

biosimilar: term for generic biologics because initial product cannot be replicated exactly
next generation sequencing (NGS): approach to determine the sequence of entire human genomes
deoxyribonucleic acid (DNA): molecule that contains biological instructions that make each species unique
genes: DNA that contains instructions to make proteins and functional RNAs
mRNA: RNA that is translated into proteins
gene variant: permanent change in the DNA sequence of a gene
silent gene variant: change DNA and mRNA, but not protein
missense gene variant: a nucleotide change the results in a protein change
nonsense gene variant: inserts a stop codon that terminates translation
insertion gene variant: adds one or more nucleotides to the gene
deletion gene variant: deletes or more nucleotides from the gene
frameshift: when the gene shifts out of its normal three-frame register
indel: when insertions and deletions occur at the same time
duplication: when a stretch of nucleotides is copied and repeated next to the original sequence
repeat expansion: multiple duplications of the same sequence
copy number variation (CNV): some genomes contain fewer or many more than two genes
aneuploidy: a change in chromosome number from 46
translocation: when part of a chromosome breaks off and attaches to another chromosome
hereditary variants: variants passed from parent to child
non-inherited variants: variants that occur during a person’s lifetime
mosaicism: cells with varying genetic makeup in the body
autosomal dominant inheritance: one altered copy is sufficient to cause a disorder
autosomal recessive inheritance: variants in both copies are required for the disorder to manifest
X-linked dominant inheritance: caused by gene variants on the X chromosome, males and females who inherit an X with the variant will show the disorder
X-linked recessive inheritance: for females: need variants on both X-chromosomes to show disorder; only need one variant (only one X chromosome)
Y-linked inheritance: disease associated variant is found on the Y chromosome
codominant inheritance: two different variants of the same gene are expressed that make different proteins
alleles: different variants of the same gene
mitochondrial inheritance: variant occurs in the mitochondrial DNA
monogenic disease: genetic diseases associated with one gene, or one position on the chromosome
locus: a gene or position on the chromosome
phenotype: observable characteristic of a gene variant
gain-of-function: toxic gene variant that causes disease
loss-of-function: variant reduces protein function, leading to disease
heterozygous: individual has two different alleles of a gene
proteosome: protein degradation machinery in the cell, often degrades protein aggregates
exons: protein encoding parts of genes/mRNAs
introns: non-coding parts of an mRNA that are removed by splicing
alternative splicing: results in different protein products from the same gene
polygenic disease=complex/multifactoral disorders: conditions/diseases that are caused by variants in multiple genes
modifier genes: gene variants can interact and change the disease phenotype
penetrance: % of individuals with a given genotype that express the phenotype
expressivity: degree to which an individual with a given genotype expresses a phenotype
hypertension: high blood pressure
primary (essential) hypertension: no identifiable cause of high blood pressure
secondary hypertension: caused by an underlying condition
polygenic risk scores: use of statistics to calculate a person or population's risk of genetic disease based on multiple genes; attempt to determine the relative risk for complex diseases
dizygotic twins: fraternal twins from two separate fertilization events
monozygotic twins: identical twins with the same initial genome sequence
Genome-wide Association Studies (GWAS): scan for disease markers across entire genomes
single nucleotide polymorphism (SNP): a single nucleotide variant in DNA
whole exome sequencing: selective sequencing of all exons in the genome
Manhattan Plot: plot showing the statistical significance of genes from a GWAS study
gene expression: the amount of RNA or protein produced by a gene
promoter: DNA sequence that initiates transcription/gene expression
enhancers: increase gene expression
silencers: reduce gene expression
insulators: block the effect of enhancers at adjacent genes
epigenetics: modification of DNA that affects gene expression
personalized genomics: using genomics to define or predict disease based on individual's DNA sequence or other genome-scale biomarkers
pharmacogenomics: how a person's genetic background affects drug response
biomarkers: DNA/RNA/protein features that correlate with disease risk or therapy efficacy
microsatellites: short DNA repeats
microsatellite instability (MSI): small deletions and insertions in microsatellite DNA
DNA mismatch repair (MMR): proteins that correct replication mistakes made by DNA polymerase
DNA mismatch repair deficiency (dMMR): a defective MMR pathway that leads to accumulation of mutations
neoantigens: new proteins found on the outside of tumor cells due to DNA mutations
pharmacogenes: genes with variants that affect drug pharmacokinetics or pharmacodynamics
pharmacokinetic genes: genes that affect pharmacokinetics of drugs (metabolism)
pharmacodynamic genes: genes that affect pharmacodynamics of drugs (mode of action)
poor, intermediate, normal, and ultrarapid metabolizers: a continuum of individuals with different kinetics of drug metabolism
structural variants: large-scale deletions or duplications affect drug metabolism
null allele: gene variant with no activity, results in less drug metabolism for pharmacokinetic genes