Sentence examples for mutation database was from inspiring English sources

The Human Gene Mutation Database was also used to determine whether variants were novel or already associated with a phenotype.

The PD Mutation Database was set up in 2010 [Nuytemans et al., 2010], essentially in response to the lack of comprehensive LSDBs of PD genes.

A novel heterozygous COL3A1 variant (IVS9-7T > C) not found in dbSNP or the COL3A1 locus specific mutation database was also identified.

This nucleotide change was not previously reported in any single-nucleotide polymorphism or mutation database, was absent in 70 control alleles and also absent in genomic DNA from both parents, indicating a de novo mutation.

Phylogenetic analysis of our blaTEM variants and their evolutionary relationship with those reported in Lahey's mutation database was derived by maximum likelihood method using MEGA software version 5 [ 14].

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].

However, variants also present in the COSMIC mutation database were rescued for manual review.

The FH HUS mutation database is available at the following URL http://www.FH HUS.org.

The European MH Group EMHGG) RYR1 mutation database is not up-to-date and lacks information on a significant number of more recently identified variants or further knowledge on variants already in the database.

The AD&FTLD Mutation Database is a locus-specific database (LSDB) that was conceived in 1998 [Cruts and Van Broeckhoven, 1998b] in the perspective of the Mutation Database Initiative [Cotton et al., 1998], an initiative originally fostered by the Human Genome Organization (www.hugo-international.org) that has through the years evolved to the Human Genome Variation Society (HGVS, www.hgvs.org).hgvs.org

Four driver mutation databases were utilized for the comparison, including Cancer Gene Census (CGC513 48, Bert Vogelstein12549, SMG12750, and Comprehensive 43551 database.