Sentence examples for interpretation of mutant from inspiring English sources

These parameters are however essential for the proper description and interpretation of mutant phenotypes and for modeling.

The Evidence-based Network for the Interpretation of Mutant Germline Alleles (ENIGMA) was funded as a US National Institutes of Health challenge grant in 2009 to focus on interpreting VUS results from BRCA genes in the public domain.

Interpretation of mutants in which there is both earlier initiation (thus decreased cell length at initiation, predicted to move the hair basally), and increased auxin levels (predicted to move the hair apically) will be particularly problematic.

Loss or gain of function mutants provided valuable evidence for the physiological role of Pro accumulation, although the interpretation of the mutant phenotypes was always hampered by the primary function of Pro in protein biosynthesis [ 4].

Taking into account that some types of neurons rely on VEGF165 and Npn1 signaling, these observations are needed for a more complete interpretation of the mutant phenotype.

A number of 1273 BRCA1 VUS's have been reported by the ENIGMA Evidence-Basedd Network for the Interpretation of Germline Mutant Alleles) consortium (up until September 2010) [ 5].

CE has been proposed by the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium to detect low-abundance transcripts [Whiley et al., 2014].

Continued data collection through analysis of cosegregation and longitudinal study of mutation carriers through the work of the Evidence-Based Netherk for the Interpretation of Germline Mutant Alleles and other research groups will be necessary to guide risk assessment in this situation.

Some mutations, without disruption of the reading frame, were considered deleterious when they were classified deleterious by the ENIGMA group (Evidence-based network for the interpretation of germline mutant alleles)[ 35].

The second survey was also sent electronically from the ENIGMA group (Evidence-based network for the interpretation of germline mutant alleles) to Medical Geneticists in December 2012 and January 2013; only respondents working in the UK have been included.

ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) is a research consortium aimed to improve methods to assess the clinical significance in breast cancer susceptibility genes [ 30].