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Article

Newborn screening and the era of medical genomics.

Seminars in perinatology - 1 Dec 2015

Francescatto Ludmila, Katsanis Nicholas

Abstract excerpt

Across the span of the last 75+ years, technological and conceptual advances in genetics have found rapid implementation at the beginning of human life. From karyotype testing, to molecular cytogenetics, to gene panel testing, and now to whole exome and whole genome sequencing, each iterative expansion of our capability to acquire genetic data on the next generation has been implemented quickly in the clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26499764
DOI: 10.1053/j.semperi.2015.09.010
PMCID: PMC4644676

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