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Updated: Jun 29, 2025

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

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Lessons and pitfalls of whole genome sequencing

Christopher J Record1, Mary M Reilly1

  • 1Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk chris.record@ucl.ac.uk.

Practical Neurology
|March 28, 2024
PubMed

Keywords:
GENETICSHMSN (CHARCOT-MARIE-TOOTH)NEUROGENETICSNEUROPATHY

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