Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals
, Mariana Ribeiro 2,3,†, Paulo Filipe Silva 2,3, Susana Valente 2,3, Filipe Alves 2,3, Margarida Venâncio 1, Jorge Sequeiros 2,3,4,5, João Parente Freixo 2,3,‡, Diana Antunes 1,6,‡ and Jorge Oliveira 2,3,4,5,*,‡
Round 1
Reviewer 1 Report
Comments and Suggestions for AuthorsSummary
Authors provided a comprehensive evaluation of the secondary findings output of the WES analysis.
Introduction
Very concise and interesting. Nevertheless, I suggest introducing the databases such as ClinVar that are pivotal for assigning the pathogenic or likely pathogenic description of the secondary findings individuated. Additionally, I recommend emphasizing the modern tools used for vcf filtration and variant prioritization. This process, in fact, is crucial for determining the selected variants (main and secondary findings).
Materials and methods
Subsection 4.1.
Could You provide additional informations regarding the of the suspected diseases for which WES has been proposed?
Author Response
Please see the attachment.
Author Response File: 
Author Response.docx
Reviewer 2 Report
Comments and Suggestions for Authorssee attached.
Comments for author File: 
Comments.pdf
Author Response
Please see the attachment.
Author Response File: Author Response.docx
