Sentence examples for characterization of variants from inspiring English sources
Mechanistic characterization of variants identified by genetic studies is the key to understanding molecular disease mechanisms.
Characterization of variants across samples was performed by custom applications developed in Java.
Third, the functional characterization of variants observed in patients can prove useful for the implication of a gene or locus in disease.
A combined environmental/clinical surveillance is able to provide a more complete picture of the spread and genetic characterization of variants circulating in the population, and allow comparisons with genotypes circulating in other geographical regions.
Because not all MLH1 alterations result in loss of MMR function, accurate characterization of variants and their classification in terms of their effect on MMR function is essential for reliable genetic testing and effective treatment.
Our yeast-based in vivo system may thus be used for functional characterization of variants with incomplete clinical data, since precise quantification of MLH1 variants is critical for effective early diagnosis and prognosis, as well as for genetic counselling of affected individuals.
Biochemical characterization of variant CP by circular dichroism and MALDI-TOF, respectively, revealed that the engineered deletion affected the protein structure and capsid dynamics.
Our own studies have recently expanded the spectroscopic and kinetic characterization of variant C. acetobutylicum HydG proteins.
Hence we carried out a comparative characterization of PGx variants with annotated neutral and disease variants from UniProt, to test the predictive power of sequence conservation and structural information in discriminating these three groups.
For processing of the sequencing data (recognition and removal of the adapter) and characterization of miRNA variants we used a stand-alone version of the Seqbuster tool (http://estivill_lab.crg.es/seqbuster[ 50]).
While unbalanced variants such as copy number variations can be mapped using array-based approaches, strategies for characterization of inversion variants have been limited and underdeveloped.
