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Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.

Paul WolujewiczVanessa Aguiar-PulidoAlice AbdelAleemVidya NairGaurav TharejaKarsten SuhreGary M ShawRichard H FinnellOlivier ElementoMargaret Elizabeth Ross
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This study underscores the need for genome-wide investigation and extends our previous threshold model of exonic, single-nucleotide variation toward human SB risk to include structural variation. Since GS data afford detection of CNVs with greater resolution than microarray methods, our results have important implications toward a more comprehensive understanding of the genetic risk and mechanisms underlying neural tube defect pathogenesis.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • mitochondrial dna
  • endothelial cells
  • induced pluripotent stem cells
  • gene expression
  • pluripotent stem cells
  • electronic health record
  • risk factors
  • big data