Article

Systems Biology Analysis of Human Genomes Points to Key Pathways Conferring Spina Bifida Risk

2021-07-04

Abstract excerpt

Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an estimated 70% of cases. Nevertheless, identifying human mutations conferring SB risk is challenging due to its relative rarity, genetic heterogeneity, incomplete penetrance and environmental influences that hamper GWAS approaches to untar...

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Literature Corpus work: 361653c8-b833-5aff-98d7-49e7ddf2f0ea
DOI: 10.1101/2021.07.02.450913

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