Assuming that whole-genome sequencing will soon be available to some couples hoping to screen for this condition prior to conception, or post-conception in states where this would be legal, how might you best identify genes in which variants are likely to cause craniorachischisis? Unlocking the Genetic Basis of Craniorachischisis: Utilizing Whole-Genome Sequencing to Identify Mutations that Lead to Birth Defects

Unlocking the Genetic Basis of Craniorachischisis: Utilizing Whole-Genome Sequencing to Identify Mutations that Lead to Birth Defects

Craniorachischisis is a devastating birth defect involving closure of the anterior neural tube, often leading to death prenatally or neonatally, or termination of pregnancy. It is an example of a birth defect that is “collectively common but individually rare”, with mutations in different genes potentially leading to the same defect. As such, identifying the genetic basis of this condition is a complex prospect. Whole-genome sequencing (WGS) is a powerful tool that may greatly aid in this endeavor. WGS is the sequencing of an individual’s entire genome, providing comprehensive information on potential mutations and genetic variations (Hearne, 2016). It is emerging rapidly as a prominent tool in clinical settings, as it is able to identify both known and novel gene variants (Lehmann & Jonnalagadda, 2020). Thus, WGS is a promising approach to identifying genetic variants associated with craniorachischisis. To best utilize WGS in the identification of variants associated with craniorachischisis, we must first identify candidate genes to be sequenced. This can be done through comparison of both unaffected and affected individuals, targeting genes in which variants are more likely to be linked to the condition (Soucy, 2020). Additionally, literature reviews can identify genes that have been linked to similar conditions, and/or that have known roles in neural tube development (Soucy, 2020). Cont…

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