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Updated: Sep 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Tracing the evolution of sequencing into the era of genomic medicine

Elaine R Mardis1,2, Richard K Wilson3,4

  • 1Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. elaine.mardis@nationwidechildrens.org.

Nature Reviews. Genetics
|August 16, 2025
PubMed

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