Development and Validation of an Instrument Measuring Determinants of Bystander Intervention to Prevent Sexual Assault: An application of the Reasoned Action Approach

Bystander Intervention (BI) is an evidence-based approach that is considered the gold standard by governmental organizations to reduce sexual assault in college. Few survey instruments are available to measure the predispositions students have towards engaging in BI. Valid and reliable instruments are greatly needed, especially those tailored to BI. The purpose of this study was to develop and validate an instrument based on the reasoned action approach with college students at two U.S. universities. An elicitation of beliefs was accomplished to inform survey items (i.e., behavioral, normative, and control beliefs). Then, an initial draft was developed and sent to an expert panel to establish validity. The final instrument was administered to undergraduate students (n = 291), and further psychometric properties (construct validity and internal consistency reliability) were evaluated. Data were fit into two separate models to evaluate fit. In the first model, a four-factor solution was evaluated (intentions, attitudes, perceived norms, and perceived behavioral control), and while results were modest, the second seven-factor solution model contained a better fit (intentions, instrumental and experiential attitudes, injunctive and descriptive norms, capacity, and autonomy). Researchers and practitioners examining BI in college can use this instrument to measure theory-based determinants of BI to reduce sexual assault

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

Investigating multiple layers of influence on sexual assault in a university setting

Sexual assault is a major public issue on college campuses; approximately 20 to 50 percent of female and up to 31 percent of male college students report being sexually victimized while in college. To date, little research has been conducted in this area that investigates interactions between intrapersonal, interpersonal, institutional, community, and societal factors that influence campus sexual assault. The main purpose of this study was to examine interactions between different layers of influence on campus sexual assault. The present study utilized a quantitative, cross-sectional design (n=677) with online delivery of survey research. Overall, 191 (28.0 percent) participants reported being sexually assaulted since the beginning of their college career, and a total of 4.8 percent (32 participants) of the sample reported perpetration since the beginning of their college career. Prior victimization was the strongest predictor of both victimization (β=2.779; p<0.001; Odds ratio=16.100) and perpetration (β=2.551; p<0.001; Odds ratio=12.823) since the start of college. Further, those who received sexual assault prevention education had had better views of the institution than those who did not (F=5.702; p=0.001). Being a victim or perpetrator did not have an effect on institutional variables. Lastly, neither rape myth acceptance nor injunctive peer norms significantly moderated the relationship between binge drinking and perpetration since the start of college. This study has promising implications for future research as well as for public health education practitioners, college administrators, and health policy experts. Coordinated national, state, and local efforts are needed to change the climate in institutions of higher education that truly promote safe, healthy relationships and behaviors in college students. (Published By University of Alabama Libraries