Article
Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
Birth defects research. Part A, Clinical and molecular teratology - 1 Aug 2014
Krupp Deidre R, Soldano Karen L, Garrett Melanie E, Cope Heidi, Ashley-Koch Allison E, Gregory Simon G
Abstract excerpt
BACKGROUND: Neural tube defects (NTD) have a strong genetic component, with up to 70% of variance in human prevalence determined by heritable factors. Although the identification of causal DNA variants by sequencing candidate genes from functionally relevant pathways and model organisms has provided some success, alternative approaches are demanded. METHODS: Next generation sequencing platforms are facilitating...
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