Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns

to explore equity and ethical issues in the application of the new techniques, to inform healthcare decisions by families, carers, and policymakers.

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Publication Details

Journal
Cochrane Database of Systematic Reviews
Published
2025-04-07
DOI
https://doi.org/10.1002/14651858.cd016118
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns

Roger F. Soll, Michelle Fiander, Matteo Bruschettini, Sara Pessano et al.
Cochrane Database of Systematic Reviews
Metabolism and Genetic Disorders
article

Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns

Roger F. Soll, Michelle Fiander, Matteo Bruschettini, Sara Pessano, Karsten Juhl Jørgensen, Francesca Faravelli, Maria Boldor
article en

Abstract

to explore equity and ethical issues in the application of the new techniques, to inform healthcare decisions by families, carers, and policymakers.

Cochrane Database of Systematic ReviewsVol. 2025(4)
University of Vermont (US), University of Southern Denmark (DK), Lund University (SE), University of Pavia (IT), Istituto Giannina Gaslini (IT), Vermont Oxford Network (US), Centre Hospitalier Universitaire de Reims (FR), Skåne University Hospital (SE), Cochrane (DK), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Université de Reims Champagne-Ardenne (FR)
Zero hunger
Openalex Percentile: Top 91%
Metabolism and Genetic Disorders
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Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns — Roger F. Soll, Michelle Fiander, et al. · Cochrane Database of Systematic Reviews (2025) | TGRS Research Map | TGRS