Sentence examples for disease causing variants from inspiring English sources

Likely disease causing variants from each pool of 16 samples were selected from the VCF.

Subsequent sequencing of MYH7 in a larger LVNC cohort identified 7 novel likely disease causing variants.

Recent advances in whole exome sequencing technology show promise for further elucidation of disease causing variants as in the recent identification of rare variants within ZNF644 segregating with pathological myopia.

PMut called 3 disease causing variants correctly, but classified two others as "neutral" mutations, when in fact these changes were known to be associated with disease.

Disease causing variants were identified by exome or gene panel sequencing.

After data filtering, the total number of putative disease causing variants was reduced by 99.3%.

For this, we used a different set of controls, all from carriers of low-frequency, non-disease causing variants or individuals with recessive phenotypes with disease causing mutations present in only one allele.

These variants may be not causative but, possibly, in linkage disequilibrium with the actual disease-causing variants.

It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.

Additional studies regarding the different disease-causing variants will help us to gain a better understanding of the phenotypic variability observed among ALMS patients.

No plausible disease-causing variants were observed in these individuals.