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Article

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.

Genome medicine - 29 Mar 2021

DeCristo Daniela M, Milko Laura V, O'Daniel Julianne M, Foreman Ann Katherine M, Mollison Lonna F, Powell Bradford C, Powell Cynthia M, Berg Jonathan S

Abstract excerpt

BACKGROUND: Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic sequencing has been introduced to this area with the hopes of detecting variants related to a vastly expanded number of conditions. Though implementation of genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33781310
DOI: 10.1186/s13073-021-00867-1
PMCID: PMC8008582

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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