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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

M

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