Genome-wide association studyIn genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease.
Computational geometryComputational geometry is a branch of computer science devoted to the study of algorithms which can be stated in terms of geometry. Some purely geometrical problems arise out of the study of computational geometric algorithms, and such problems are also considered to be part of computational geometry. While modern computational geometry is a recent development, it is one of the oldest fields of computing with a history stretching back to antiquity.
5α-Reductase 2 deficiency5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum. 5αR2 is expressed in specific tissues and catalyzes the transformation of testosterone (T) to 5α-dihydrotestosterone (DHT). DHT plays a key role in the process of sexual differentiation in the external genitalia and prostate during development of the male fetus.
Right triangleA right triangle (American English) or right-angled triangle (British), or more formally an orthogonal triangle, formerly called a rectangled triangle (ὀρθόσγωνία), is a triangle in which one angle is a right angle (that is, a 90-degree angle), i.e., in which two sides are perpendicular. The relation between the sides and other angles of the right triangle is the basis for trigonometry. The side opposite to the right angle is called the hypotenuse (side c in the figure).
Androgen insensitivity syndromeAndrogen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. This unresponsiveness can impair or prevent the development of male genitals, as well as impairing or preventing the development of male secondary sexual characteristics at puberty.
Takifugu rubripesTakifugu rubripes, commonly known as the Japanese puffer, Tiger puffer, or torafugu (虎河豚), is a pufferfish in the genus Takifugu. It is distinguished by a very small genome that has been fully sequenced because of its use as a model species and is in widespread use as a reference in genomics. The species is often referred to in the genomics literature as Fugu rubripes. The genus Fugu is a synonym of the currently preferred Takifugu. Takifugu is Japanese for puffer and rubripes comes from the Latin ruber and pēs meaning ruddy foot.
PharmacogenomicsPharmacogenomics is the study of the role of the genome in drug response. Its name (pharmaco- + genomics) reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of a patient affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response, by correlating DNA mutations (including single-nucleotide polymorphisms, copy number variations, and insertions/deletions) with pharmacokinetic (drug absorption, distribution, metabolism, and elimination), pharmacodynamic (effects mediated through a drug's biological targets), and/or immunogenic endpoints.
