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There is abundant evidence that such regions are likely to be highly enriched for disease causing variation.
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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].
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.
The differentiation of disease causing driver mutations from the passenger variations is a challenge for mutation analysis (13).
In half of the subjects GATA2-sequence variations were found, two of which were considered disease causing.
Treat the disease causing the jaundice.
There is considerable variation in the mastitic disease caused by these two pathogens.
Protozoal disease, disease caused by protozoans.
This will cause variations in color intensity.
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.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com