Review Reports

Round 1

Reviewer 1 Report

Comments to authors:

1. Introduction can include more description about the 22q11.2 deletion itself, such as its structure, known biological functions, and potential phenotype consequences.

2. Line 64-68, How the FISH experiment was done should be briefly described? and a figure displaying different types of LCR22A-LCR22D deletion sill be clearer.

3. Line 104-105, I recommend including a detail formula will be better, especially such as logistic regression model.

4. Line 147, a subtitle "3.2" is used, but I can not locate "3.1". Figures have legends, so it's not necessary to include this subtitle.

5. Figures 1A and 1B should be combined into one figure with two panels. Their legends as well.

6. A study regarding human height is published in Nature (Yengo, L., Vedantam, S., Marouli, E. et al. A saturated map of common genetic variants associated with human height. Nature (2022). https://doi.org/10.1038/s41586-022-05275-y), if their significant genomic regions overlap with this CNV region?

 

Author Response

Please see the attachment, which contains the response to both reviewer 1 and 2. 

Reviewer 2 Report

Please see the attached review.

Comments for author File: Comments.pdf

Author Response

Please see the attachment which contains the responses to both reviewers 1 and 2. 

Author Response File: Author Response.docx