title: Genomics in premature infants: a non-invasive strategy to obtain high-quality DNA.
abstract: 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.
authors.affiliation: 1] Division of Neonatology, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA [2] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Mariam
authors.initials: M
authors.lastname: Said
authors.affiliation: Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA.
authors.forename: Clint
authors.initials: C
authors.lastname: Cappiello
authors.affiliation: 1] Center for Genetic Medicine Research, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA [2] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Joseph M
authors.initials: JM
authors.lastname: Devaney
authors.affiliation: Department of Forensic Science, The George Washington University, Washington, DC; USA.
authors.forename: Daniele
authors.initials: D
authors.lastname: Podini
authors.affiliation: Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA.
authors.forename: Alana L
authors.initials: AL
authors.lastname: Beres
authors.affiliation: 1] Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA [2] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Stanislav
authors.initials: S
authors.lastname: Vukmanovic
authors.affiliation: 1] Division of Neonatology, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA [2] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Khodayar
authors.initials: K
authors.lastname: Rais-Bahrami
authors.affiliation: 1] Division of Laboratory Medicine, Children's National Health System, Washington, DC; USA [2] Division of Hematology and Oncology, Children's National Health System, Washington, DC; USA [3] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Naomi C
authors.initials: NC
authors.lastname: Luban
authors.affiliation: 1] Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA [2] Department of General Surgery, Children's National Health System, Washington, DC; USA [3] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Anthony D
authors.initials: AD
authors.lastname: Sandler
authors.affiliation: 1] Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, 111 Michigan Avenue NW, Washington, DC; USA [2] Department of Pediatrics, George Washington University School of Medicine, Washington, DC; USA.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Tatari-Calderone
mesh_terms: D004847:Epithelial Cells / Q000378:metabolism; D059472:Exome; D056426:Genetic Loci; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D018895:Microsatellite Repeats; D009061:Mouth Mucosa / Q000166:cytology