Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

doi:10.1001/jamapediatrics.2020.5906

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Article

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

JAMA pediatrics - 1 May 2021

Maron Jill L, Kingsmore Stephen F, Wigby Kristen, Chowdhury Shimul, Dimmock David, Poindexter Brenda, Suhrie Kristen, Vockley Jerry, Diacovo Thomas, Gelb Bruce D, Stroustrup Annemarie, Powell Cynthia M, Trembath Andrea, Gallen Matthew, Mullen Thomas E, Tanpaiboon Pranoot, Reed Dallas, Kurfiss Anne, Davis Jonathan M

Abstract excerpt

Importance: A targeted genomic sequencing platform focused on diseases presenting in the first year of life may minimize financial and ethical challenges associated with rapid whole-genomic sequencing. Objective: To report interim variants and associated interpretations of an ongoing study comparing rapid whole-genomic sequencing with a novel targeted genomic platform composed of 1722 actionable genes targeting...

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Identifiers

PMID: 33587123
DOI: 10.1001/jamapediatrics.2020.5906
PMCID: PMC7885094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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