The Role of Media Outreach and Program Modernization in the Growth of the SNAP Caseload

This research seeks to understand the role of information, in the form of media campaigns, and changes in transaction costs, in the form of online applications and call centers, in the growth in county-level SNAP caseloads. We find that SNAP radio advertisements are associated with a small increase in the SNAP caseload, though the magnitude of the estimates are sensitive to the econometric specification. The SNAP television ads, which were run only in 2006, are negatively correlated with caseloads. We find evidence of endogeneity in the placement of the advertising campaigns, leading to a positive bias in the estimated effect of the radio ad campaigns and a negative bias in the estimated effect of the TV ad campaigns. We also find the modernization policies are generally negatively correlated with caseloads, suggesting that providing information via the web and call centers did not successfully lower transaction costs in a uniform way that lead to higher SNAP participation.Supplemental Nutrition Assistance Program, SNAP, food stamps, food assistance, outreach, advertising, Consumer/Household Economics, Food Consumption/Nutrition/Food Safety, Food Security and Poverty, H53, I3,

The Dynamics of Students' Behaviors and Reasoning during Collaborative Physics Tutorial Sessions

We investigate the dynamics of student behaviors (posture, gesture, vocal register, visual focus) and the substance of their reasoning during collaborative work on inquiry-based physics tutorials. Scherr has characterized student activity during tutorials as observable clusters of behaviors separated by sharp transitions, and has argued that these behavioral modes reflect students' epistemological framing of what they are doing, i.e., their sense of what is taking place with respect to knowledge. We analyze students' verbal reasoning during several tutorial sessions using the framework of Russ, and find a strong correlation between certain behavioral modes and the scientific quality of students' explanations. We suggest that this is due to a dynamic coupling of how students behave, how they frame an activity, and how they reason during that activity. This analysis supports the earlier claims of a dynamic between behavior and epistemology. We discuss implications for research and instruction.Comment: 4 pages, PERC 200

Storage and Technology Obsolescence: Evaluating Digital Preservation Capacity Using the Digital Preservation Capability Maturity Model (DPCMM)

Panel presentation at the Spring 2019 MARAC Conference in Morgantown, WV.In this panel presentation, Fatemeh Rezaei, Archivist; Kristin Conlin, Reference and Instruction Librarian; and Laura Bell, Archivist at the University of Baltimore discuss how to convey the importance of a digital preservation program in a data-supported framework that ensures continuous access to digital assets to library administration. An initial assessment using the Digital Preservation Capability Maturity Model (DPCMM) revealed that our library's storage and retention of records were based on individual department standards which were not uniform or implemented with archival principles for storage and retention in mind. In this panel discussion we share our experience using the DPCMM in the Robert L. Bogomolny library at the University of Baltimore, as well as the impact of the results and the departmental conversations that occurred surrounding digital preservation in our library

Archives Off-Site: Adapting to Serve our Communities During the Pandemic and Beyond

Panelists from three institutions, one small, one medium, and one large, will share their adaptive and iterative approaches to their work while handling varying levels of access and opening between 2020 and 2021. Panelists will discuss the successes and challenges of coordinating archives projects and services in response to navigating online-only and hybrid environments in addition to physical building access limitations. Projects include finding aid migration to ArchivesSpace while working from home during the Pandemic; 'hot-wiring' SpringShare's LibAnswers to manage research and 'scan-on-demand' requests; and teaching virtually amidst new demands and the need to support synchronous and asynchronous instruction. The session will highlight the workflows and solutions each institution developed and continues to adapt. Panelists will also discuss how these solutions have and will impact archives functions moving forward

Mechanisms of ring chromosome formation, ring instability and clinical consequences

<p>Abstract</p> <p>Background</p> <p>The breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients.</p> <p>Methods</p> <p>Several techniques were performed such as genome-wide array, MLPA (Multiplex Ligation-Dependent Probe Amplification) and FISH (Fluorescent <it>in situ </it>Hybridization).</p> <p>Results</p> <p>The ring chromosomes of patients I to XIV were determined to be, respectively: r(3)(p26.1q29), r(4)(p16.3q35.2), r(10)(p15.3q26.2), r(10)(p15.3q26.13), r(13)(p13q31.1), r(13)(p13q34), r(14)(p13q32.33), r(15)(p13q26.2), r(18)(p11.32q22.2), r(18)(p11.32q21.33), r(18)(p11.21q23), r(22)(p13q13.33), r(22)(p13q13.2), and r(22)(p13q13.2). These rings were found to have been formed by different mechanisms, such as: breaks in both chromosome arms followed by end-to-end reunion (patients IV, VIII, IX, XI, XIII and XIV); a break in one chromosome arm followed by fusion with the subtelomeric region of the other (patients I and II); a break in one chromosome arm followed by fusion with the opposite telomeric region (patients III and X); fusion of two subtelomeric regions (patient VII); and telomere-telomere fusion (patient XII). Thus, the r(14) and one r(22) can be considered complete rings, since there was no loss of relevant genetic material. Two patients (V and VI) with r(13) showed duplication along with terminal deletion of 13q, one of them proved to be inverted, a mechanism known as inv-dup-del. Ring instability was detected by ring loss and secondary aberrations in all but three patients, who presented stable ring chromosomes (II, XIII and XIV).</p> <p>Conclusions</p> <p>We concluded that the clinical phenotype of patients with ring chromosomes may be related with different factors, including gene haploinsufficiency, gene duplications and ring instability. Epigenetic factors due to the circular architecture of ring chromosomes must also be considered, since even complete ring chromosomes can result in phenotypic alterations, as observed in our patients with complete r(14) and r(22).</p

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published guidelines for the assessment of variants in genes associated with Mendelian diseases. Nine molecular diagnostic laboratories involved in the Clinical Sequencing Exploratory Research (CSER) consortium piloted these guidelines on 99 variants spanning all categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign). Nine variants were distributed to all laboratories, and the remaining 90 were evaluated by three laboratories. The laboratories classified each variant by using both the laboratory's own method and the ACMG-AMP criteria. The agreement between the two methods used within laboratories was high (K-alpha = 0.91) with 79% concordance. However, there was only 34% concordance for either classification system across laboratories. After consensus discussions and detailed review of the ACMG-AMP criteria, concordance increased to 71%. Causes of initial discordance in ACMG-AMP classifications were identified, and recommendations on clarification and increased specification of the ACMG-AMP criteria were made. In summary, although an initial pilot of the ACMG-AMP guidelines did not lead to increased concordance in variant interpretation, comparing variant interpretations to identify differences and having a common framework to facilitate resolution of those differences were beneficial for improving agreement, allowing iterative movement toward increased reporting consistency for variants in genes associated with monogenic disease

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population