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Reply to Letter about whole genome sequencing in newborns.

Authors :
Lantos, John
Janvier, Annie
Barrington, Keith
Source :
Human Genetics; Feb2023, Vol. 142 Issue 2, p165-166, 2p
Publication Year :
2023

Abstract

The key questions, as highlighted by Wojcik et al., are ones about the timing and sequencing of tests, the predictive value of tests, and the cost-benefit ratios of different approaches. Dear Editor, We are grateful to Wojcik and colleagues for their thoughtful critique of our paper. Dr Wojcik's claims that clinical diagnoses are often in error are supported by references to reports of diagnostic inaccuracy from autopsy series of adults. [Extracted from the article]

Details

Language :
English
ISSN :
03406717
Volume :
142
Issue :
2
Database :
Complementary Index
Journal :
Human Genetics
Publication Type :
Academic Journal
Accession number :
161822961
Full Text :
https://doi.org/10.1007/s00439-022-02499-w