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Stephanie L. Baross on Muck Rack

Stephanie L. Baross

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Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project - European Journal of Human Genetics

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By Verity Hartill, Jenny Lord, Erina Sasaki, Hazel Needham, Bernard Keavney, Kathryn E. Hentges, Stephanie L. Baross
| Nature Verified
Abstract Congenital heart disease (CHD) describes a structural cardiac defect present from birth. A cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic CHD (286 probands) and familial CHD (262 probands) were identified. “Tiering” following genome sequencing data analysis prioritised variants in gene panels linked to participant phenotype. To improve diagnostic rates in the CHD cohorts, we implemented an agnostic de novo Gene Discovery Pipeline (GDP).
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