Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

Background: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case–control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a birth defect or a liveborn child without a birth defect between 1997 and 2011. They were invited to complete a telephone interview to collect pregnancy exposure data and were mailed buccal cell collection kits to collect specimens from themselves, their child (if living), and their child's father. Over 23,000 families representing more than 30 major structural birth defects provided DNA specimens. Methods: To evaluate their utility for exome sequencing (ES), specimens from 20 children with colonic atresia were studied. Evaluations were conducted on specimens collected using cytobrushes stored and transported in open versus closed packaging, on native genomic DNA (gDNA) versus whole genome amplified (WGA) products and on a library preparation protocol adapted to low amounts of DNA. Results: The DNA extracted from brushes in open packaging yielded higher quality sequence data than DNA from brushes in closed packaging. Quality metrics of sequenced gDNA were consistently higher than metrics from corresponding WGA products and were consistently high when using a low input protocol. Conclusions: This proof-of-principle study established conditions under which ES can be applied to NBDPS specimens. Successful sequencing of exomes from well-characterized NBDPS families indicated that this unique collection can be used to investigate the roles of genetic variation and gene–environment interaction effects in birth defect etiologies, providing a valuable resource for birth defect researchers

Fashion retailing – past, present and future

This issue of Textile Progress reviews the way that fashion retailing has developed as a result of the application of the World Wide Web and information and communications technology (ICT) by fashion-retail companies. The review therefore first considers how fashion retailing has evolved, analysing retail formats, global strategies, emerging and developing economies, and the factors that are threatening and driving growth in the fashion-retail market. The second part of the review considers the emergence of omni-channel retailing, analysing how retail has progressed and developed since the adoption of the Internet and how ICT initiatives such as mobile commerce (m-commerce), digital visualisation online, and in-store and self-service technologies have been proven to support the progression and expansion of fashion retailing. The paper concludes with recommendations on future research opportunities for gaining a better understanding of the impacts of ICT and omni-channel retailing, through which it may be possible to increase and develop knowledge and understanding of the way the sector is developing and provide fresh impetus to an already-innovative and competitive industr

Modelling shopping centre choices: Effects of car ownership on clothing shopping in Singapore

10.1080/09599910600933798Journal of Property Research233189-21

Intertemporal price discrimination Consumer cognition, behaviour and protection

SIGLEAvailable from British Library Document Supply Centre-DSC:3739.0605(R000221632) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

The positioning of generics within the development of grocery private labels

SIGLELD:6224.121(8208) / BLDSC - British Library Document Supply CentreGBUnited Kingdo