Mobile elements are responsible for half of the human genome. Among the elements, L1 and Alu are most ubiquitous. They use L1 enzymatic machinery to move in their host genomes. A significant amount of research has been conducted about these two elements. The results showed that these two elements have played important roles in generating genomic variations between human and chimpanzee lineages and even within a species, through various mechanisms. SVA elements are a third type of mobile element which uses the L1 enzymatic machinery to propagate in the human genome but has not been studied much relative to the other elements. Here, we attempt the first identification of the human genomic deletions caused by SVA elements, through the comparison of human and chimpanzee genome sequences. We identified 13 SVA recombination-associated deletions (SRADs) and 13 SVA insertion-mediated deletions (SIMDs) in the human genome and characterized them, focusing on deletion size and the mechanisms causing the events. The results showed that the SRADs and SIMDs have deleted 15,752 and 30,785 bp, respectively, in the human genome since the divergence of human and chimpanzee and that SRADs were caused by two different mechanisms, nonhomologous end joining and nonallelic homologous recombination.

BackgroundNoninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing.MethodsA total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea. They underwent definitive diagnoses by full karyotyping by blind analysis and received aneuploidy screening at 11–22 weeks of gestation. Three steps were employed for cfDNA analyses. First, cfDNA was sequenced. Second, the effect of GC bias was corrected using normalization of samples as well as LOESS and linear regressions. Finally, statistical analysis was performed after selecting a set of reference samples optimally adapted to a test sample from the whole reference samples. We evaluated our approach by performing cfDNA testing to assess the risk of trisomies 13, 18, and 21 using the sets of extracted reference samples.ResultsThe adaptive selection algorithm presented here was used to choose a more optimized reference sample, which was evaluated by the coefficient of variation (CV), demonstrated a lower CV and higher sensitivity than standard approaches. Our adaptive approach also showed that fetal aneuploidies could be detected correctly by clearly splitting the z scores obtained for positive and negative samples.ConclusionsWe show that our adaptive reference selection algorithm for optimizing trisomy detection showed improved reliability and will further support practitioners in reducing both false negative and positive results.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-016-0222-5) contains supplementary material, which is available to authorized users.

The co-existence of carbapenemase, 16S rRNA methylase and mutated quinolone resistancedetermining regions (QRDRs) can cause serious difficulty in treating infections with multidrugresistant Acinetobacter baumannii. In this study, we aimed to determine the mechanisms of imipenem, amikacin and ciprofloxacin resistance in A. baumannii isolates with resistance to these antibiotics. A total of 31 non-duplicate isolates of amikacin-and ciprofloxacin-resistant Acinetobacter isolates were identified from April to August 2010 from a single hospital in South Korea. To assess the clonal relatedness of the 31 Acinetobacter isolates, multilocus sequence typing, network phylogenetic analysis and enterobacterial repetitive intergenic consensus-PCR were utilized. Detection of OXA-type carbapenemase and 16S rRNA methylase was conducted using a multiplex PCR assay. The QRDRs of the gyrA and parC genes were amplified and sequenced. The result showed that 30/31 isolates harboured the bla OXA-23 -like carbapenemase, which made them resistant to imipenem (MICs ¢16 mg ml "1 ). Twenty-eight of the 31 isolates were found to possess armA, a 16S rRNA methylase gene, and showed resistance to amikacin, arbekacin, gentamicin and tobramycin (MICs .256 mg ml "1 ). All of the isolates were determined to carry QRDR mutations in both gyrA and parC: a Ser83Leu substitution in gyrA and a Ser80Leu substitution in parC, causing a ciprofloxacin MIC ¢64 mg ml "1 . In conclusion, A. baumannii with co-existence of carbapenemase, 16S rRNA methylase and mutated QRDRs are extremely prevalent in South Korea, which may cause serious problems in the treatment of A. baumannii infections using carbapenem, amikacin and ciprofloxacin.

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