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Resequencing at scale in neurodevelopmental disorders

Research output: Contribution to journalReview article

Original languageEnglish
Pages (from-to)488-489
Number of pages2
JournalNature Genetics
Volume49
Issue number4
DOIs
StatePublished - 30 Mar 2017

Abstract

An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD). The application of molecular inversion probe technologies to sequence 208 candidate genes at scale in this impressive resource has identified a large set of plausibly causative mutations for these disorders.

    Research areas

  • Journal Article

ID: 38978258