Genomics in premature infants: A non-invasive strategy to obtain high-quality DNA

Mariam Said, Clint Cappiello, Joseph M. Devaney, Daniele Podini, Alana L. Beres, Stanislav Vukmanovic, Khodayar Rais-Bahrami, Naomi C. Luban, Anthony D. Sandler, Zohreh Tatari-Calderone

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


We used a cost-effective, non-invasive method to obtain high-quality DNA from buccal epithelial-cells (BEC) of premature infants for genomic analysis. DNAs from BEC were obtained from premature infants with gestational age ≤ 36 weeks. Short terminal repeats (STRs) were performed simultaneously on DNA obtained from the buccal swabs and blood from the same patient. The STR profiles demonstrated that the samples originated from the same individual and exclude any contamination by external DNAs. Whole exome sequencing was performed on DNAs obtained from BEC on premature infants with and without necrotizing enterocolitis, and successfully provided a total number of reads and variants corroborating with those obtained from healthy blood donors. We provide a proof of concept that BEC is a reliable and preferable source of DNA for high-throughput sequencing in premature infants.

Original languageEnglish (US)
Article number4286
JournalScientific reports
StatePublished - Mar 6 2014
Externally publishedYes

ASJC Scopus subject areas

  • General


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