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Updated: Jul 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Fen Guo1, Ruby Liu1, Yinghong Pan1

  • 1Revvity Omics, Pittsburgh, PA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 15, 2023
PubMed
Abstract

Keywords:
Clinical utilityDiagnostic yieldExome sequencingFirst-tier testingGenome sequencing

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