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Article

Somatic variation as an incidental finding in the pediatric next-generation sequencing era.

Cold Spring Harbor molecular case studies - 1 Dec 2021

Melas Marilena, Mathew Mariam T, Mori Mari, Jayaraman Vijayakumar, Wilson Sarah A, Martin Cortlandt, Jacobson-Kelly Amanda E, Kelly Ben J, Magrini Vincent, Mardis Elaine R, Cottrell Catherine E, Lee Kristy

Abstract excerpt

The methodologic approach used in next-generation sequencing (NGS) affords a high depth of coverage in genomic analysis. Inherent in the nature of genomic testing, there exists potential for identifying genomic findings that are incidental or secondary to the indication for clinical testing, with the frequency dependent on the breadth of analysis and the tissue sample under study. The interpretation and...

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PMID: 34716204
DOI: 10.1101/mcs.a006135
PMCID: PMC8751410

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