434 Peters Defs

non- coding parts of an mRNA that are removed by splicing.

degree to which an individual with a given genotype expresses a phenotype.

genes with variants that affect drug pharmacokinetics or pharmacodynamics.

molecule that contains biological instructions that make each species unique.

when part of a chromosome breaks off and attaches to another chromosome.

large- scale deletions or duplications affect drug metabolism.

individual has two different alleles of a gene.

how a person's genetic background affects drug response.

RNA that is translated into proteins.

% of individuals with a given genotype that express the phenotype.

cells with varying genetic makeup in the body.

when the gene shifts out of its normal three- frame register.

term for generic biologics because initial product can not be replicated exactly.

a disease-associated variant is found on the Y chromosome.

new proteins found on the outside of tumor cells due to DNA mutations.

Poor, intermediate, normal, and ________: a continuum of individuals with different kinetics of drug metabolism.

a change in chromosome number from 46.

observable characteristic of a gene variant.

block the effect of enhancers at adjacent genes.

DNA /RNA /protein features that correlate with disease risk or therapy efficacy.

DNA ________ (MMR): proteins that correct replication mistakes made by DNA polymerase.

DNA sequence that initiates transcription /gene expression.

protein degradation machinery in the cell, often degrades protein aggregates.

modification of DNA that affects gene expression.

gene variant with no activity, results in less drug metabolism for pharmacokinetic genes.

when insertions and deletions occur at the same time.

gene or position on the chromosome.

one altered copy is sufficient to cause a disorder.

different variants of the same gene.

using genomics to define or predict disease based on individual's DNA sequence or other genome- scale biomarkers.

________ (CNV): some genomes contain fewer or many more than two genes.

________ (SNP): a single nucleotide variant in DNA.

genetic diseases associated with one gene, or one position on the chromosome.

selective sequencing of all exons in the genome.

caused by an underlying condition.

two different variants of the same gene are expressed that make different proteins.

approach to determine the sequence of entire human genomes.

small deletions and insertions in microsatellite DNA.

variant occurs in the mitochondrial DNA.

when a stretch of nucleotides is copied and repeated next to the original sequence.

results in different protein products from the same gene.

DNA that contains instructions to make proteins and functional RNA

increase gene expression

toxic gene variant that causes disease.

a defective MMR pathway that leads to the accumulation of mutations.