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Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens.

Kristjan Eerik KaseniitGregory J HoganKevin M D'AuriaCarrie HavertyDale Muzzey
Published in: BMC medical genomics (2018)
Our study thoroughly investigates a common source of NIPS false positives and demonstrates how to bypass its corrupting effects. Our findings offer insight into the interpretation of NIPS results and inform the design of NIPS algorithms suitable for use in screening in the general obstetric population.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • pregnant women
  • dna methylation
  • machine learning
  • high throughput
  • deep learning
  • pregnancy outcomes
  • birth weight
  • body mass index
  • single cell