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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in

Milad Mortazavi1, James Guevara1, Joshua Diaz1

  • 1Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA.

Cell Genomics
|March 10, 2026
PubMed
Abstract

Keywords:
CGG repeatFMR1autismburden testcomplex SVsde novo mutationlong-read sequencingmethylationstructural variationtandem repeat

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