Genetic Etiology of Hypoplastic Left Heart Syndrome

Study ID Alternative Stable ID Type
phs001256 Case-Control

Study Description

To understand the genetic etiology of hypoplastic left heart syndrome (HLHS), patients with HLHS were consented and recruited, with blood drawn for DNA extraction and exome sequencing. Using the exome sequencing dataset obtained, rare coding sequence variants were recovered and enrichment analysis was carried out to identify genes and pathways that are likely to contribute to HLHS.

Archive Link Archive Accession
dbGaP phs001256

Who archives the data?

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