Sentence examples for disease-causing variation from inspiring English sources

CLN1, CLN2 and CLN10 diseases can be diagnosed by enzyme assay, the remainder can be distinguished only by sequencing to identify or exclude a disease-causing variation.

Sanger sequencing of the entire coding sequence of both of these genes confirmed the presence of the heterozygous variants identified by exome sequencing but failed to detect a second disease-causing variation in either gene.

If all the affected family members carried a particular marker and none of the unaffected family members did, the researchers hypothesized that the disease-causing variation was somewhere near that marker.

Phylogenetic conservation is a valuable source of information for distinguishing between benign and disease-causing variation.

We believe that this might be helpful for understanding and predicting disease-causing variation, as well as for facilitating drug development.

Second, each increment of additional sensitivity also increases the likelihood that observation of a single disease-causing variation in an individual is irrelevant to their disease.

There is abundant evidence that such regions are likely to be highly enriched for disease causing variation.

A recent study reported differences between the distribution of 'disease causing' and 'non-disease causing' variations in different sub-groups of GPCR family members [ 16].

Thirty-two of the most common disease-causing ABCA4 variations were selected for the initial screen.

The first step of the screen consisted of an inexpensive, high-throughput allele-specific assay designed to detect 32 of the most common disease-causing ABCA4 variations in the North American population.

Owing to the highly dispersed nature of the LSDBs and the potential for duplication between databases, accurate statistics with regard to like-for-like bona fide germline disease-causing (not merely neutral) variation is difficult to obtain.