Project description:Data from the VLA lyssavirus genotyping microarray. The array platform for this data is GEO accession GPL8066, and consists of 624 oligos representing two viral families. The data set itself consists of 14 arrays, 7 hybridised with RNA from mice brains infected with 7 genotypes of lyssaviruses, 1 hybridised with RNA from normal mouse brain, and 6 hybridised with RNA from coded samples consisting of infected mouse brains or control mouse brains. Keywords: Lyssavirus genotyping microarray
Project description:We describe the promise of the Fragile Families and Child Wellbeing Study (FFCWS) for developmental researchers. FFCWS is a birth cohort study of 4,898 children born in 1998–2000 in large US cities. This prospective national study collected data on children and parents at birth and during infancy (age 1), toddlerhood (age 3), early childhood (age 5), middle childhood (age 9), adolescence (age 15), and, in progress, young adulthood (age 22). Though FFCWS was created to understand the lives of unmarried parent families, its comprehensive data on parents, children, and contexts can be used to explore many other developmental questions. We identify six opportunities for developmentalists: (a) analyzing developmental trajectories, identifying the importance of the timing of exposures for later development, (c) documenting bidirectional influences on development, (d) understanding development in context, (e) identifying biological moderators and mechanisms, and ( f ) using an urban-born cohort that is large, diverse, and prospective.
Project description:Combined immunodeficiencies are a heterogeneous collection of primary immune disorders that exhibit defects in T cell development or function, along with impaired B cell activity even in light of normal B cell maturation. CARMIL2 (RLTPR) is a protein involved in cytoskeletal organization and cell migration which also plays a role in CD28 co-signaling of T cells. Mutations in this protein have recently been reported to cause a novel primary immunodeficiency disorder with variable phenotypic presentations. Here we deposit genotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with dermatitis, eosophagitis and recurrent skin and chest infections with evidence of combined immunodeficiency. By using this genotyping data to perform autozygome-guided analysis, and coupling it with the results of whole exome sequencing, we uncovered two mutations not previously reported (p.R50T and p.L846Sfs) in CARMIL2.