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Article
Peer-Review Record

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals

Int. J. Mol. Sci. 2025, 26(8), 3509; https://doi.org/10.3390/ijms26083509
by Mafalda Melo 1,*,†, 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,*,‡
Reviewer 1: Anonymous
Reviewer 2:
Int. J. Mol. Sci. 2025, 26(8), 3509; https://doi.org/10.3390/ijms26083509
Submission received: 11 March 2025 / Revised: 1 April 2025 / Accepted: 3 April 2025 / Published: 9 April 2025

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

Summary

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 Authors

see attached.

Comments for author File: Comments.pdf

Author Response

Please see the attachment.

Author Response File: Author Response.docx

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