Analysis of DNA sequence variants detected by high-throughput sequencing

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Updated: May 25, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

David R Adams1, Murat Sincan, Karin Fuentes Fajardo

  • 1NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland, USA. david.adams@nih.gov

Human Mutation
|February 1, 2012
PubMed

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