Review for 10.1186/s12876-020-01403-y (2020)

Reviewer’ s report
Title: Germline RAD54L with Somatic POLE Defect Implicated in Hypermutation Phenotype:
Case presentation
Version: 1Date: 07 Jul 2020
Reviewer's report:
REVISION ASSESSMENT FROM THE ACADEMIC PEER REVIEWER:
Has the author addressed your concerns sufficiently for you to now recommend the work as a
technically sound contribution? Yes
Reviewer comments: Title: in the reply to the referee, the authors affirm they have not tested the
parents: they should then change the title into "germiline" or "constitutional".They did not reply if they specifically tested the tetranucleotide repeats to analyse elevatedmicrosatellite alterations at selected tetranucleotide repeats (EMAST), but they wrote the methodsof analysis (in a case-report it can be omitted also). Finally the genomic coordinates (referencegenome, start and end position to define the variant) were not given
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NoAre the methods appropriate and well described?
If not, please specify what is required in your comments to the authors.
NoDoes the work include the necessary controls?
If not, please specify which controls are required in your comments to the authors.
No
Are the conclusions drawn adequately supported by the data shown?
If not, please explain in your comments to the authors.
YesAre you able to assess any statistics in the manuscript or would you recommend an
additional statistical review?If an additional statistical review is recommended, please specify what aspects require furtherassessment in your comments to the editors.
Not relevant to this manuscript
Quality of written English
Please indicate the quality of language in the manuscript:
AcceptableDeclaration of competing interests
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recommendation.
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