Sentence examples for mutation database to from inspiring English sources
Here, our goal is to use ILP to translate a mutation database to a mutation knowledge base.
Walker et al. [ 10], have utilized the IARC TP53 mutation database to define 73 "hotspots" for mutation in TP53 related to changes in protein structure and function.
This lowered our false positive rate to <25%, which is reasonable given the absence of a known mutation database to use to train mutation-calling parameters, the low sequencing coverage, and the heterozygous nature of our alleles.
To further assess potential benefits of the whole genome approach we compared our curated mutation database to two others (TBDreaMDB and MUBII-TB-DB), as well as those used in three commercial molecular tests, the Xpert MTB/RIF (Cepheid, Inc., Sunnyvale, CA, USA), and the MTBDRplus and MTBDRsl (Hain Life Science, Germany).
HGMD has become the de facto central disease-associated mutation database available to the scientific community.
Finally, functional analysis using mutant chicken keratin forms based on those found in the human α-keratin mutation database led to abnormal phenotypes.
This tool is not connected to mutation databases or to related published data, thus precluding an easy review of eventual discordances.
The AD&FTLD Mutation Database was designed to hold dominant, heterozygous mutations only, preventing the allocation of multiple variations to one family, for example, recessive mutations such as the homozygous APP p.Ala673Val mutation affecting Aβ amyloidogenesis [Di Fede et al., 2009].
Mutation databases dedicated to GPCR mutations are currently available online like GPCR DB [ 7] and tinyGRAP [ 8].
Before NGS can be successfully integrated into the clinic, the currently available human mutation databases need to be carefully re-evaluated [ 10]. mtDNA: mitochondrial DNA; NGS: next-generation sequencing; RCC: respiratory chain complex.
However, these examples also demonstrate that it is often very hard for authors, diagnosticians and mutation database curators alike to classify the pathogenicity of identified variants with any degree of certainty.
