Sentence examples for mutation screening when from inspiring English sources

Application of this method allows for identification of gains and losses in targeted sequence data, providing comprehensive mutation screening when combined with a short read aligner.

In Finland, women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in BRCA1.

Our case is of great clinical interest, as it documents the interest of mutation screening when sonography during pregnancy reveals findings suggestive of a skeletal dysplasia, especially when the karyotype does not explain the abnormal sonographic findings.

Even though the deletion allele was observed only in one out 61 currently analyzed families, our results suggests that women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements, at least in BRCA1.

Next-generation sequencing, though, has considerable potential as a mutation screening tool when strategies to distinguish mutations from sequencing errors are employed and sample pooling is used to improve cost-efficiency [ 23].

In summary, mutation screening is appropriate when sonography during pregnancy reveals findings suggestive of a skeletal dysplasia, especially when the karyotype does not explain the abnormal sonographic findings.

Moreover, when mutation screening is used to support or specify a clinical diagnosis, a quick survey of parameters such as evidence of familial cosegregation, frequencies of occurrence in patients and unaffected individuals, interspecies codon conservation, cell biological consequences, and genotype phenotype correlations might assist in making an accurate diagnostic decision prior to treatment.

However, controversial data were obtained when CFTR mutation screening was performed in infertile patients with defective testicular function, with some reports indicating the association of CFTR mutations and defects in sperm production [12], [13], [14], [15], but some others rejecting the association [16], [17], [18], [19].