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        Fluorescence energy transfer-labeled primers for high-performance forensic DNA profiling

        Yeung, Stephanie H. I.,Seo, Tae Seok,Crouse, Cecelia A.,Greenspoon, Susan A.,Chiesl, Thomas N.,Ban, Jeff D.,Mathies, Richard A. WILEY-VCH Verlag 2008 Electrophoresis Vol.29 No.11

        <P>A fluorescence energy transfer (ET) dye-labeled STR typing system (ET 16-plex) is developed for the markers used in the commercial STR typing kit PowerPlex 16, and its performance assessed using a 96-lane microfabricated capillary array electrophoresis (μCAE) system. The ET 16-plex amplicons displayed 1.6–9-fold higher fluorescence intensities compared to those produced using the single-dye (SD)-labeled multiplex kits. The ET multiplex delivered full STR profiles from 62.5 pg of DNA; half the input required for the SD kits while maintaining a similar heterozygote allele balance. This increased sensitivity should improve typing of poor-quality DNA samples by making minor or imbalanced alleles more readily detectable at the low copy number (LCN) threshold. The ET 16-plex also generated complete profiles with only 28 PCR cycles; this capability should improve LCN typing by reducing the amplification time and drop-in allele incidence. To confirm the practical advantages of ET-labeled primers, six previously problematic casework samples were tested and only the ET 16-plex kit was able to capture additional allele data. The successful development and demonstration of ET primers for higher sensitivity STR typing offers a simple solution to improving current commercial multiplex typing capability. The superior spectral properties and universal compatibility with any primer sequence provided by ET cassettes will make future multiplex construction more facile and straightforward. The pairing of ET cassette technology with the μCAE system illustrates not only an enhanced STR typing platform, but a significant step toward a higher-efficiency forensic laboratory enabled by better chemistry and microfluidics.</P>

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        Locative Inversion and Passivization in Xitsonga

        Michael Jonathan Mathew Barrie,Seunghun Lee,Crous Hlungwane 서울대학교 인지과학연구소 2023 Journal of Cognitive Science Vol.24 No.1

        We describe and analyze a novel pattern of locative inversion, passivization, and object clitics in Xitsonga, a Bantu language of South Africa. We note that, unlike in most Bantu languages, locative inversion can take place with intransitives, transitives with active voice, and transitives with passive voice. While subject marking is obligatory, object marking is optional and indicates emphasis, although the semantic details are unclear. An interesting pattern emerges with locative inversion. Object marking is possible only with passive voice. We present an analysis in which the subject and object markers are clitics that are inserted post-syntactically. The subject clitic is triggered by agreement between T and the grammatical subject. The object clitic is triggered by theta assignment by V (which raises to Asp) to the thematic object. In locative inversion, the external argument remains in situ and serves as an intervenor between V (housed on Asp) and the object. In the passive, the external argument is suppressed or appears in a by-phrase, and the object can trigger the appearance of the object clitic on Asp.

      • A class of non-linear exposure-response models suitable for health impact assessment applicable to large cohort studies of ambient air pollution

        Nasari, Masoud M.,Szyszkowicz, Mieczysław,Chen, Hong,Crouse, Daniel,Turner, Michelle C.,Jerrett, Michael,Pope III, C. Arden,Hubbell, Bryan,Fann, Neal,Cohen, Aaron,Gapstur, Susan M.,Diver, W. Ryan,Stie Springer Netherlands 2016 AIR QUALITY ATMOSPHERE AND HEALTH Vol.9 No.8

        <P>The effectiveness of regulatory actions designed to improve air quality is often assessed by predicting changes in public health resulting from their implementation. Risk of premature mortality from long-term exposure to ambient air pollution is the single most important contributor to such assessments and is estimated from observational studies generally assuming a log-linear, no-threshold association between ambient concentrations and death. There has been only limited assessment of this assumption in part because of a lack of methods to estimate the shape of the exposure-response function in very large study populations. In this paper, we propose a new class of variable coefficient risk functions capable of capturing a variety of potentially non-linear associations which are suitable for health impact assessment. We construct the class by defining transformations of concentration as the product of either a linear or log-linear function of concentration multiplied by a logistic weighting function. These risk functions can be estimated using hazard regression survival models with currently available computer software and can accommodate large population-based cohorts which are increasingly being used for this purpose. We illustrate our modeling approach with two large cohort studies of long-term concentrations of ambient air pollution and mortality: the American Cancer Society Cancer Prevention Study II (CPS II) cohort and the Canadian Census Health and Environment Cohort (CanCHEC). We then estimate the number of deaths attributable to changes in fine particulate matter concentrations over the 2000 to 2010 time period in both Canada and the USA using both linear and non-linear hazard function models.</P><P><B>Electronic supplementary material</B></P><P>The online version of this article (doi:10.1007/s11869-016-0398-z) contains supplementary material, which is available to authorized users.</P>

      • SCISCIESCOPUS

        All that glitters is not <i>Ramularia</i>

        Videira, S.I.R.,Groenewald, J.Z.,Braun, U.,Shin, H.D.,Crous, P.W. CBS PUBLICATIONS 2016 STUDIES IN MYCOLOGY Vol.83 No.-

        <P><I>Ramularia</I> is a species-rich genus that harbours plant pathogens responsible for yield losses to many important crops, including barley, sugar beet and strawberry. Species of <I>Ramularia</I> are hyphomycetes with hyaline conidiophores and conidia with distinct, thickened, darkened, refractive conidiogenous loci and conidial hila, and <I>Mycosphaerella</I> sexual morphs. Because of its simple morphology and general lack of DNA data in public databases, several allied genera are frequently confused with <I>Ramularia</I>. In order to improve the delimitation of <I>Ramularia</I> from allied genera and the circumscription of species within the genus <I>Ramularia</I>, a polyphasic approach based on multilocus DNA sequences, morphological and cultural data were used in this study. A total of 420 isolates belonging to <I>Ramularia</I> and allied genera were targeted for the amplification and sequencing of six partial genes. Although <I>Ramularia</I> and <I>Ramulariopsis</I> proved to be monophyletic, <I>Cercosporella</I> and <I>Pseudocercosporella</I> were polyphyletic. <I>Phacellium</I> isolates clustered within the <I>Ramularia</I> clade and the genus is thus tentatively reduced to synonymy under <I>Ramularia</I>. <I>Cercosporella</I> and <I>Pseudocercosporella</I> isolates that were not congeneric with the ex-type strains of the type species of those genera were assigned to existing genera or to the newly introduced genera <I>Teratoramularia</I> and <I>Xenoramularia</I>, respectively. <I>Teratoramularia</I> is a genus with ramularia-like morphology belonging to the <I>Teratosphaeriaceae</I>, and <I>Xenoramularia</I> was introduced to accommodate hyphomycetous species closely related to <I>Zymoseptoria</I>. The genera <I>Apseudocercosporella</I>, <I>Epicoleosporium</I>, <I>Filiella</I>, <I>Fusidiella</I>, <I>Neopseudocercosporella</I>, and <I>Mycosphaerelloides</I> were also newly introduced to accommodate species non-congeneric with their purported types. A total of nine new combinations and 24 new species were introduced in this study.</P>

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        Characterization of Large Structural Genetic Mosaicism in Human Autosomes

        Machiela, Mitchell J.,Zhou, W.,Sampson, Joshua N.,Dean, Michael C.,Jacobs, Kevin B.,Black, A.,Brinton, Louise A.,Chang, I.S.,Chen, C.,Chen, C.,Chen, K.,Cook, Linda S.,Crous Bou, M.,De Vivo, I.,Doherty University of Chicago Press [etc.] 2015 American journal of human genetics Vol.96 No.3

        Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 10<SUP>-31</SUP>) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.

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