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Targeted Next Generation Sequencing and Intellectual Disability

2016-09-06 16:08:21 | BioPortfolio

Summary

The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families.

Secondary purposes are:

1. To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs.

2. To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.

3. To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth

4. To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS

5. To establish genotype/phenotype correlations for each gene for which a mutation has been identified

6. To optimize the software pipelining for a rapid analysis for diagnosis.

Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional

Conditions

Intellectual Disability

Intervention

Blood sample

Status

Active, not recruiting

Source

Central Hospital, Nancy, France

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-09-06T16:08:21-0400

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Medical and Biotech [MESH] Definitions

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Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

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