Resequencing at scale in neurodevelopmental disorders

David R FitzPatrick

doi:10.1038/ng.3827

Resequencing at scale in neurodevelopmental disorders

David R FitzPatrick (Invited Reviewer)

Research output: Contribution to journal › Review article › peer-review

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.

Original language	English
Pages (from-to)	488-489
Number of pages	2
Journal	Nature Genetics
Volume	49
Issue number	4
DOIs	https://doi.org/10.1038/ng.3827
Publication status	Published - 30 Mar 2017

Keywords

Journal Article

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10.1038/ng.3827

Bargain Hunt_ Re_sequencing at scale in neurodevelopmental disease gene discoveryAccepted author manuscript, 18.3 KB

HGU Core Award Apr 12 - MAr 18
Hastie, N., Adams, I., Baldock, R., Bickmore, W., Caceres, J., Dorin, J., FitzPatrick, D., Haley, C., Hill, B., Jackson, I., Jackson, A., Kudla, G., Meehan, R. & Patton, E.
MRC
1/04/12 → 31/03/18
Project: Research

Cite this

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Resequencing at scale in neurodevelopmental disorders

Abstract

Keywords

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Projects

HGU Core Award Apr 12 - MAr 18

Cite this