Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one ‐carbon metabolism networks

ConclusionsWe provide a means of utilizing large publicly available sequencing datasets as controls for sequencing projects examining rare disease. This approach confirmed existing risk genes for myelomeningocele and identified possible novel risk genes. Lastly, it suggests possible distinct genetic etiologies for this malformation between different ethnicities.

Source: Molecular Genetics & Genomic Medicine - September 21, 2020 Category: Genetics & Stem Cells Authors: Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley ‐Koch, Alanna C. Morrison, Hope Northrup, Kit Sing Au Tags: ORIGINAL ARTICLE Source Type: research