Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
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ABSTRACT:
SUBMITTER: Krupp DR
PROVIDER: S-EPMC4169137 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Publications
Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
Krupp Deidre R DR Soldano Karen L KL Garrett Melanie E ME Cope Heidi H Ashley-Koch Allison E AE Gregory Simon G SG
Birth defects research. Part A, Clinical and molecular teratology 20140721 8
<h4>Background</h4>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.<h4>Methods</h4>Next generation sequencing platforms are facilitating the production of massive amounts of sequencing data, primarily from the ...[more]
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