2
$\begingroup$

I am reading a journal paper about genes that are related to autism, and I have come across the following statement:

To assess commonality of biological function among rare risk alleles, we compared functional knowledge of genes overlapping inherited structural variants in idiopathic ASD subjects relative to healthy controls

I am not sure what is meant by 'genes overlapping inherited structural variants'. I searched the definition for structural variants and according to Wikipedia, structural variation refers to the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations.

However I am not sure what is meant by genes overlapping the inherited structural variants. Does this mean for structural variants that are common between ASD subjects, there are some common genes that are found in these regions (the inherited structural variants)? Any insights are appreciated.

$\endgroup$
2
$\begingroup$

If I understand correctly, what this paper is looking at is rare copy-number variation in ASD cases relative to controls. So in the context of the paper, the passage you quoted is basically saying we found genes that had copy-number variation between cases and controls, i.e. the cases had a pattern of more/fewer copies of a stretch of the genome that includes a gene than the controls. Then they look at the functions of the genes they found in a gene ontology database to see if they seem like they might relate to ASD.

$\endgroup$

Your Answer

By clicking “Post Your Answer”, you agree to our terms of service, privacy policy and cookie policy

Not the answer you're looking for? Browse other questions tagged or ask your own question.