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Product

An Evidence-Based Approach to Establish the Functional and Clinical Significance of Copy Number Variants in Intellectual and Developmental Disabilities

Center:

NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND

Fiscal Year:

2012

Contact Information:

Warren Sanger
[email protected]
402-559-6328

Product Description:

Copy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are common in normal individuals, determining the functional and clinical significance of rare copy number variants in patients remains challenging. The adoption of whole-genome chromosomal microarray analysis as a first-tier diagnostic test for individuals with unexplained developmental disabilities provides a unique opportunity to obtain large copy number variant datasets generated through routine patient care.

Keyword(s):

CNVs, evidence-based approach, clinical significance, ID/DD, consortium

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals, Students

Alternative Format:

To Obtain Copies (URL or Email):

[email protected]

COVID-19 Related Data:

N/A

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