Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
Mary M JenkinsLynn M AlmliFaith PangilinanJessica X ChongElizabeth E BlueStuart K ShapiraJanson WhiteDaniel McGoldrickJoshua D SmithJames C MullikinChristopher J BeanWendy N NembhardXiang-Yang LouGary M ShawPaul A RomittiKim Keppler-NoreuilMahsa M YazdyDenise M KayTonia C CarterAndrew F OlshanKristin J MooreNanette Nascone-YoderRichard H FinnellPhilip J LupoMarcia L Feldkampnull nullnull nullDeborah A NickersonMichael J BamshadLawrence C BrodyJennita Reefhuisnull nullPublished in: Birth defects research (2019)
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.