Monogenic disorder Disorder caused by one or more mutations in a single gene, eg, cystic fibrosis (mutations in the CFTR gene). Such disorders are also sometimes referred to Mendelian diseases. Figure 5. Monogenic vs complex disease Penetrance The frequency (in percent) with which a dominant or homozygous recessive gene or gene combination {Selleck Anti-cancer Compound Library|Selleck Anticancer Compound Library|Selleck Anti-cancer Compound Library|Selleck Anticancer Compound Library|Selleckchem Anti-cancer Compound Library|Selleckchem Anticancer Compound Library|Selleckchem Anti-cancer Compound Library|Selleckchem Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|Anti-cancer Compound Library|Anticancer Compound Library|buy Anti-cancer Compound Library|Anti-cancer Compound Library ic50|Anti-cancer Compound Library price|Anti-cancer Compound Library cost|Anti-cancer Compound Library solubility dmso|Anti-cancer Compound Library purchase|Anti-cancer Compound Library manufacturer|Anti-cancer Compound Library research buy|Anti-cancer Compound Library order|Anti-cancer Compound Library mouse|Anti-cancer Compound Library chemical structure|Anti-cancer Compound Library mw|Anti-cancer Compound Library molecular weight|Anti-cancer Compound Library datasheet|Anti-cancer Compound Library supplier|Anti-cancer Compound Library in vitro|Anti-cancer Compound Library cell line|Anti-cancer Compound Library concentration|Anti-cancer Compound Library nmr|Anti-cancer Compound Library in vivo|Anti-cancer Compound Library clinical trial|Anti-cancer Compound Library cell assay|Anti-cancer Compound Library screening|Anti-cancer Compound Library high throughput|buy Anticancer Compound Library|Anticancer Compound Library ic50|Anticancer Compound Library price|Anticancer Compound Library cost|Anticancer Compound Library solubility dmso|Anticancer Compound Library purchase|Anticancer Compound Library manufacturer|Anticancer Compound Library research buy|Anticancer Compound Library order|Anticancer Compound Library chemical structure|Anticancer Compound Library datasheet|Anticancer Compound Library supplier|Anticancer Compound Library in vitro|Anticancer Compound Library cell line|Anticancer Compound Library concentration|Anticancer Compound Library clinical trial|Anticancer Compound Library cell assay|Anticancer Compound Library screening|Anticancer Compound Library high throughput|Anti-cancer Compound high throughput screening| manifests itself in the phenotype of the carriers. Pharmacogenetics A branch of genetics which deals with the genetic variability in

individual responses to drugs and drug metabolism. Phenocopy A nonhereditary, phenotypic modification (caused by special environmental conditions) that mimics a similar Inhibitors,research,lifescience,medical phenotype caused by a gene mutation. Phenotype The observable properties (structural and functional) of an organism, produced by the interaction Inhibitors,research,lifescience,medical between the organism’s genotype and the environment in which it finds itself. Pleiotropy Genes or mutations that result in the production of multiple, apparently unrelated, effects at the phenotypic level. For example, patients with phenylketonuria, caused by mutations in the PAH (phenylalanine hydroxylase) gene, have reduced hair and skin

pigmentation in addition to mental retardation, resulting from toxic levels of phenylalanine. Polymorphism (genetic) A chromosome or DNA variant that is observed Inhibitors,research,lifescience,medical in natural populations. A gene locus is defined as polymorphic if a rare allele has a frequency of 0.01 (1%) or more. Positional cloning Finding disease genes based on knowledge of their chromosomal location (usually found via linkage analysis in families with the disease) as opposed to knowledge of the function of the gene or protein encoded by the gene. Second- or next-generation sequencing (also Inhibitors,research,lifescience,medical referred to as high-throughput sequencing) New techniques that have increased the speed and decreased the cost of DNA sequencing by two orders of magnitude, enabling the sequencing of the entire genomes of many individuals. Single nucleotide polymorphism (SNP) Heritable polymorphism resulting from a

single base pair change. SNPs generally have only two alleles. Structural variant Structural Inhibitors,research,lifescience,medical genomic variation includes any genetic variant that alters chromosomal structure, including inversions, translocations, duplications and deletions. old Duplications and deletions, collectively known as CNVs (see copy number variation) are the most common form of structural variation in the human genome. Synonymous nucleotide change/non-synonymous nucleotide change A change in the DNA sequence which does not result in the change in the amino acid sequence, eg, GTT>GTC both code for Valine (Val or V). A nonsynonymous change results in the coding of a different amino acid (eg, GTT>GAT results in Val>Asp). Trinucleotide repeat expansion An increased number of contiguous trinucleotide repeats (eg, CAG, CGG) in the DNA sequence from one generation to the next.