Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.

@article{Solomon2013ExomeSA,
  title={Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.},
  author={Benjamin D Solomon and Daniel E Pineda-Alvarez and Donald W Hadley and Nancy F. Hansen and Asha Kamat and Frank X. Donovan and Settara C Chandrasekharappa and S P Hong and E Roessler and James C. Mullikin},
  journal={Molecular syndromology},
  year={2013},
  volume={4 1-2},
  pages={27-31}
}
Exome sequencing offers an efficient and affordable method to interrogate genetic factors involved in human disease. Performing exome sequencing of monozygotic twins discordant for VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities) association-type congenital malformations was hypothesized to potentially reveal discordant variants that could demonstrate disease cause(s). After demonstrating monozygosity, we… CONTINUE READING
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