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Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the...

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2344274804

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

About this item

Full title

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2020-05, Vol.22 (5), p.937-944

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose
Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology safely and effectively. We investigated the choices made by a diverse group of parents with newborns when offered tiered genomic information from exome sequencing.
Methods
This population-derived coh...

Alternative Titles

Full title

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2344274804

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2344274804

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-019-0745-1

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