Yang et al has done tremendous effort to genetically analyze a large cohort of NICU infants (2303) with wide range of clinical abnormalities. The introduction and the discussion section of the manuscript are well explanatory, however the result section is too concise to interpret. Here are my comments to address :
Abstract
1. "The diagnostic rate in this NICU cohort is 12.3% (284), with 190 probands
with molecular diagnoses made from SNV analyses (66.9%), 94 patients
with diagnostic aneuploidy/CNV findings (33.1%), and 1 patient with
both SNV and CNV." So the total number of cases diagnosed are 285 right?
Results
1. Figure 1 is not described anywhere in the result
2. Table 1 is not clear and too brief to interpret. Kindly remake a detailed table separating SNV/Indel cases and copy number variations. Please include more columns to show inheritance, type of mutation and all.
3. Legends of the 2 figures are not explained well
4. Figure 2 graph is poor quality. Kindly follow journal guidelines and remake the figure (please use Graph pad Prism if possible)
5. Please include serial numbers in the supplementary tables so that the number of patients shown can be easily seen
6. Results section is too short and poorly written. This should be explanatory to help authors to interpret findings, as this is an Original article.
7. If available, please include the status of consanguinity of each family in the supp table.
Discussion
1. "The diagnostic yield for our cohort (12.3%) is lower than that of previously published WGS or WES NICU patients (13-50%)." How can you compare your medical exome (targets only 2742 genes) data with previously published WGS/WES data? Is there any medical exome data available in the literature from same ethnic population?

Thank you for addressing all my concerns