The validity of the Leiter international performance scale in measuring the intelligence of intellectually superior children

The thrust of this project was to compare the obtained IQ scores between the Wechsler Intelligence Scales for Children-Revised Full Scale score at 120 and above of public school students who were in classes for gifted and talented with the scores obtained when the Leiter International Performance Scale was administered

Visualization of Science Supported by NADP Measurements

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Should We Keep Everything Forever? Determining Long-Term Value of Research Data

The University of Illinois at Urbana-Champaign's library-based Research Data Service (RDS) launched an institutional data repository called the Illinois Data Bank (IDB) in May 2016. The RDS makes a commitment to preserving and facilitating access to published research datasets for a minimum of five years after the date of publication in the Illinois Data Bank. The RDS has developed guidelines and processes for reviewing published datasets after their five-year commitment ends to determine whether to retain, deaccession, or dedicate more stewardship resources to datasets. In this poster, we will describe how the University of Illinois at Urbana-Champaign preservation review planning team drew upon appraisal and reappraisal theory and practices from the archives community to develop preservation review processes and guidelines for datasets published in the Illinois Data Bank.Ope

Identifying influential individuals in linkage analysis: Application to a quantitative trait locus detected in the COGA data

Once linkage is detected to a quantitative trait locus (QTL), the next step towards localizing the gene involved may be to identify those families, or individuals, in whom the putative mutations are segregating. In this paper, we describe a jackknife procedure for identifying individuals (and families) who contribute disproportionately to the linkage. Following initial detection of linkage to a QTL, the strategy involves sequentially removing each individual (or each family) from the analysis and recomputing the lod score associated with the linked region using data from all remaining subjects (or families). This procedure can be used to determine if particular observations have substantial impact on evidence for linkage. Identification of such observations may provide insights for further efforts to localize the QTL.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/101831/1/1370170744_ftp.pd

Research Data Lightning Talks

On January 27, 2016, 31 individuals from the University Library community gathered to learn from their colleagues in a session of lightning talks that spanned a variety of real-world research data experiences.Ope

Should we keep everything forever (reprised)? Preservation review of research data in a repository as an art and a science

--This poster was accepted for iPres2018, Boston, USA-- The Illinois Data Bank was established in 2016 as an institutional file-based repository for research data (Hetrick et al. 2018). The service commits to a minimum retention period of five years, after which deposits are to be appraised and potentially reformatted, enhanced, or withdrawn. Preservation review guidelines were established and a “review indicator” was proposed (Anderson et al., 2016) to help curators identify datasets for which an in-depth, human-mediated review may be warranted. Our poster will characterize the datasets deposited during Illinois Data Bank’s first two years in order to evaluate the following: the feasibility and utility of our proposed Review Indicator as currently formulated, and possible actions during initial curation that would minimize or eliminate the need for a five-year review of some datasets. As we continue to explore strategies to assist with the on-going stewardship of complex data collections, we hope that our efforts will spark conversations with, and insights from, others who are responsible for preserving similarly challenging collectionsOpe

A Participant Agreement for Minting DOIs for Data Not in a Repository

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Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions associated with the presence of carotid plaque (P < 5 × 10 -8). The associated SNPs mapped in or near genes related to cellular signaling, lipid metabolism and blood pressure homeostasis, and two of the regions were associated with coronary artery disease (P < 0.006) in the Coronary Artery Disease Genome-Wide Replication and Meta-Analysis (CARDIoGRAM) consortium. Our findings may provide new insight into pathways leading to subclinical atherosclerosis and subsequent cardiovascular events

Mosaic Chromosomal alterations in Blood across ancestries Using Whole-Genome Sequencing

Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program. We observed higher sensitivity with whole-genome sequencing data, compared with array-based data, in uncovering mCAs at low mutant cell fractions and found that individuals of European ancestry have the highest rates of autosomal mCAs and the lowest rates of chromosome X mCAs, compared with individuals of African or Hispanic ancestry. Although further studies in diverse populations will be needed to replicate our findings, we report three loci associated with loss of chromosome X, associations between autosomal mCAs and rare variants in DCPS, ADM17, PPP1R16B and TET2 and ancestry-specific variants in ATM and MPL with mCAs in cis

Heritability of fractional anisotropy in human white matter: a comparison of Human Connectome Project and ENIGMA-DTI data

The degree to which genetic factors influence brain connectivity is beginning to be understood. Large-scale efforts are underway to map the profile of genetic effects in various brain regions. The NIH-funded Human Connectome Project (HCP) is providing data valuable for analyzing the degree of genetic influence underlying brain connectivity revealed by state-of-the-art neuroimaging methods. We calculated the heritability of the fractional anisotropy (FA) measure derived from diffusion tensor imaging (DTI) reconstruction in 481 HCP subjects (194/287 M/F) consisting of 57/60 pairs of mono- and dizygotic twins, and 246 siblings. FA measurements were derived using (Enhancing NeuroImaging Genetics through Meta-Analysis) ENIGMA DTI protocols and heritability estimates were calculated using the SOLAR-Eclipse imaging genetic analysis package. We compared heritability estimates derived from HCP data to those publicly available through the ENIGMA-DTI consortium, which were pooled together from five-family based studies across the US, Europe, and Australia. FA measurements from the HCP cohort for eleven major white matter tracts were highly heritable (h2 = 0.53–0.90, p < 10− 5), and were significantly correlated with the joint-analytical estimates from the ENIGMA cohort on the tract and voxel-wise levels. The similarity in regional heritability suggests that the additive genetic contribution to white matter microstructure is consistent across populations and imaging acquisition parameters. It also suggests that the overarching genetic influence provides an opportunity to define a common genetic search space for future gene-discovery studies. Uniquely, the measurements of additive genetic contribution performed in this study can be repeated using online genetic analysis tools provided by the HCP ConnectomeDB web application