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Babesiosis or piroplasmosis is a malaria-like parasitic disease caused by infection with a eukaryotic parasite in the order Piroplasmida, typically a Babesia or Theileria, in the phylum Apicomplexa. Human babesiosis transmission via tick bite is most common in the Northeastern and Midwestern United States and parts of Europe, and sporadic throughout the rest of the world. It occurs in warm weather. People can get infected with Babesia parasites by the bite of an infected tick, by getting a blood transfusion from an infected donor of blood products, or by congenital transmission . Ticks transmit the human strain of babesiosis, so it often presents with other tick-borne illnesses such as Lyme disease. After trypanosomes, Babesia is thought to be the second-most common blood parasite of mammals. They can have major adverse effects on the health of domestic animals in areas without severe winters. In cattle, the disease is known as Texas cattle fever or redwater.
In genetics and bioinformatics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population.
Pharmacogenomics, often abbreviated "PGx," is the study of the role of the genome in drug response. Its name 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 with pharmacokinetic, pharmacodynamic, and/or immunogenic endpoints.
Cytochrome P450 2D6 (CYP2D6) is an enzyme that in humans is encoded by the CYP2D6 gene. CYP2D6 is primarily expressed in the liver. It is also highly expressed in areas of the central nervous system, including the substantia nigra.
Bartonellosis is an infectious disease produced by bacteria of the genus Bartonella. Bartonella species cause diseases such as Carrión's disease, trench fever, cat-scratch disease, bacillary angiomatosis, peliosis hepatis, chronic bacteremia, endocarditis, chronic lymphadenopathy, and neurological disorders.
Cytochrome P450 family 2 subfamily C member 9 is an enzyme protein. The enzyme is involved in the metabolism, by oxidation, of both xenobiotics, including drugs, and endogenous compounds, including fatty acids. In humans, the protein is encoded by the CYP2C9 gene. The gene is highly polymorphic, which affects the efficiency of the metabolism by the enzyme.
The variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change. For example, among humans, about 1 in every 1,200 nucleotide bases differ. The size of human variome in terms of effective population size is claimed to be about 10,000 individuals. This variation rate is comparatively small compared to other species. For example, the effective population size of tigers which perhaps has the whole population size less than 10,000 in the wild is not much smaller than the human species indicating a much higher level of genetic diversity although they are close to extinction in the wild. In practice, the variome can be the sum of the single nucleotide polymorphisms (SNPs), indels, and structural variation (SV) of a population or species. The Human Variome Project seeks to compile this genetic variation data worldwide. Variomics is the study of variome and a branch of bioinformatics.
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Donna R. Maglott is a staff scientist at the National Center for Biotechnology Information known for her research on large-scale genomics projects, including the mouse genome and development of databases required for genomics research.
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The Clinical Genome Resource (ClinGen) is an initiative developed by the National Human Genome Research Institute (NHGRI) with the aim of creating a knowledge base of the clinical relevance of genes and variants for use in precision medicine and research. It was founded by the NHGRI in 2013, and is now funded by the National Institutes of Health (NIH). It is currently developing a resource that aims to define the relevance of genes and variants for utilisation clinically in precision medicine and other research purposes.
References
- ↑ Landrum, M.J.; Lee, J.M.; Benson, M.; Brown, G.; Chao, C.; Chitipiralla, S.; Gu, B.; Hart, J.; Hoffman, D.; Hoover, J.; Jang, W. (2016). "ClinVar: public archive of interpretations of clinically relevant variants". Nucleic Acids Research. 44 (D1): D862–D868. doi:10.1093/nar/gkv1222. PMC 4702865 . PMID 26582918.
- ↑ Landrum, M. J.; Kattman, B. L. (2018). "ClinVar at five years: delivering on the promise". Human Mutation. 39 (11): 1623–1630. doi: 10.1002/humu.23641 . PMID 30311387. S2CID 52963829.
- ↑ Tina Hesman Saey (2018). "What genetic tests from 23andMe, Veritas and Genos really told me about my health". ScienceNews.
