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Decoding Developmental Disorders in Humams

Institut National de la Santé Et de la Recherche Médicale, France · 2019
ClinicalTrials.gov · Datasets · License: Public Domain · 2019
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genetic-diseases
The DEVO-DECODE project aims to align our currently limited knowledge currently limited knowledge of the genetic architecture of developmental with our more advanced knowledge of their "phenome". To this end, we aim to establish a homogeneous cohort of patients with with developmental disorders to identify new genetic variants genetic variants, and thus study the association between developmental and genetic variants. Secondary objectives are:2 * Carry out WGS studies not only to refine exosomal sequencing data exome sequencing data, but above all to identify and validate non-coding non-coding DNA alterations, in both transcribed and non-transcribed transcribed or non-transcribed genomic domains * Develop precise preclinical models for functional studies of pathophysiological pathways
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