MutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential. The software performs a battery of...
6 KB (679 words) - 15:13, 27 January 2024
testing, as mutations in the CHD7 gene are not always listed in public databases. and predicted to be deleterious by CADD and MutationTaster. Phenotypic...
14 KB (1,581 words) - 19:46, 20 May 2025
(SNVs). Classical bioinformatics tools, such as SIFT, Polyphen and MutationTaster, successfully predict the functional consequence of non-synonymous substitution...
48 KB (4,006 words) - 10:28, 9 April 2025
Single-nucleotide polymorphism (redirect from SNP mutation)
those in distantly related species. SNAP2 SuSPect PolyPhen-2 PredictSNP MutationTaster: official website Variant Effect Predictor from the Ensembl project...
58 KB (6,253 words) - 23:44, 28 April 2025
Dysosteosclerosis (section TCIRG1 mutation)
databanks. Missense mutation was reported to be present in multiple patients and ranked disease-causing by MutationTaster. This insertion mutation is located in...
20 KB (2,214 words) - 03:15, 28 May 2025
ANNOVAR (section Using ANNOVAR for prioritization of genetic variants to identify mutations in a rare genetic disease)
annotations could be used to determine the functional consequences of the mutations on the genes and organisms, infer cytogenetic bands, report functional...
30 KB (3,454 words) - 04:02, 12 December 2023
bitter or is virtually tasteless, depending on the genetic makeup of the taster. The ability to taste PTC is often treated as a dominant genetic trait,...
17 KB (1,693 words) - 23:05, 1 December 2024
Calamansi (section Variegated mutation)
fully ripe form with a more mature flavor profile than the unripe version. Tasters note elements of apricot, tangerine, lemon, pineapple, and guava. The peel...
19 KB (1,927 words) - 23:11, 10 May 2025
textures, and impressions that Pinot noir can produce sometimes confuses tasters. Broadly, the wines tend to be of light to medium body with an aroma reminiscent...
49 KB (5,752 words) - 12:48, 26 May 2025
at which the presence of a dilute substance can be detected by a human taster, of different sweet substances. Substances are usually measured relative...
97 KB (10,659 words) - 15:57, 23 April 2025
achieve the desired volume. It can also be qualitative; the taster or a team of tasters (cellar master, winemaker, owner of the estate, etc.) determine...
134 KB (16,193 words) - 21:32, 24 May 2025
Alfred L. (2003). "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)". Journal of Clinical Investigation...
12 KB (860 words) - 03:49, 17 September 2024
haemophilia blood products – Health crisis in the late 1970s up to 1985 Food taster – Person ingesting food prepared for someone else to ensure it's safe to...
34 KB (4,214 words) - 13:41, 19 May 2025
ages, tannins will form long polymerized chains which come across to a taster as "softer" and less tannic. This process can be accelerated by exposing...
47 KB (5,593 words) - 21:31, 24 May 2025
aromas commonly associated with Vitis labrusca varieties. While European tasters, such as Oz Clarke and Jancis Robinson, often describe the level of foxiness...
18 KB (2,284 words) - 14:36, 6 November 2024
having a vomeronasal organ that allows them to use their tongue as scent tasters, while its longitudinal, transverse, and vertical intrinsic muscles aid...
49 KB (6,104 words) - 02:18, 5 May 2025
Plants, New York: Macmillan Publishers US, 1976, ISBN 0-02-792600-1 The Taster's Guide to Beer: Brews and Breweries of the World, New York: Macmillan Publishers...
106 KB (10,924 words) - 14:52, 29 May 2025