Sentence examples for mutation characterization from inspiring English sources

We performed two separate digestions: one with Bse YI (for c.*132T>G mutation characterization) and the other with AciI (for c.*137delC characterization).

TILLING is fast becoming a mainstream technology for mutation characterization (Comai and Henikoff, 2006) and for analysing single nucleotide polymorphisms (SNP) (Cordeiro et al., 2006 a ).

Sequence variation annotation was performed using the IntegraGen in-house pipeline, which consisted of gene annotation (RefSeq), detection of known single nucleotide polymorphisms (dbSNP 135) followed by mutation characterization (missense, intronic, synonymous, nonsense, splice site, and insertions/deletions).

Table  1 shows the features from the studied population including the experiments 1, 2 and 3. CFTR mutation frequency and mutation characterization are described, respectively, in the Additional files 2 and 3.> -wrap-foot> *Mean ± standard deviation; median (minor and major values).

In the present study, we have therefore utilized co-evolution analysis to identify candidate residues in ABCG2 for mutation and characterization.

Our results overall strengthen the overwhelming necessity of cost-effective and practical methods for EGFR mutation detailed characterization [ 7] for NSCLC patient management, even when dealing with small amount of tumoral tissue.

Although the applications of LC MS or LC MS/MS to the molecular mass measurement, sequence determination, DNA adducts identification, detection of mutations and characterization of covalent and/or noncovalent DNA/RNA complexes have been comprehensively reviewed in a few excellent review papers.

This study presents a detailed analysis of the persistence of defined DNA adducts in spermatozoa following exposure to B[a]P at different stages of spermatogenesis, including the stem cell stages, along with stage specific analyses of de novo germ line mutations and characterization of mutants.

Although progress has been made in identifying specific differentially expressed genomic regions contributing to adaptive divergence, identification of specific mutations, and characterization of interactions among genomic regions, remains a major challenge for future work.

Continued identification of PRCP mutations, full-characterization of PRCP knockout mice, and studies with knock-in mice with PRCP/PRCP mutations will provide evidence that PRCP is a disease-causing gene for both obesity and hypertension.

In such assessments with radiation or chemical mutagens, the following information is required: a) spontaneous and induced forward-mutation frequencies, b) dose-response curves for the overall induction of specific-locus mutations, c) genetic characterization of spontaneous and induced mutations, and d) dose-response curves for the different genotypic classes.