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Updated: Mar 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A research roadmap for next-generation sequencing informatics
Russ B Altman1, Snehit Prabhu2, Arend Sidow3
1Bioengineering, Genetics, and Medicine, Stanford University, Stanford, CA 94305, USA. russ.altman@stanford.edu.
Abstract:
Next-generation sequencing technologies are fueling a wave of new diagnostic tests. Progress on a key set of nine research challenge areas will help generate the knowledge required to advance effectively these diagnostics to the clinic.
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