The Great Observatories All-Sky LIRG Survey: Comparison of Ultraviolet and Far-Infrared Properties

The Great Observatories All-sky LIRG Survey (GOALS) consists of a complete sample of 202 Luminous Infrared Galaxies (LIRGs) selected from the IRAS Revised Bright Galaxy Sample (RBGS). The galaxies span the full range of interaction stages, from isolated galaxies to interacting pairs to late stage mergers. We present a comparison of the UV and infrared properties of 135 galaxies in GOALS observed by GALEX and Spitzer. For interacting galaxies with separations greater than the resolution of GALEX and Spitzer (2-6"), we assess the UV and IR properties of each galaxy individually. The contribution of the FUV to the measured SFR ranges from 0.2% to 17.9%, with a median of 2.8% and a mean of 4.0 +/- 0.4%. The specific star formation rate of the GOALS sample is extremely high, with a median value (3.9*10^{-10} yr^{-1}) that is comparable to the highest specific star formation rates seen in the Spitzer Infrared Nearby Galaxies Survey sample. We examine the position of each galaxy on the IR excess-UV slope (IRX-beta) diagram as a function of galaxy properties, including IR luminosity and interaction stage. The LIRGs on average have greater IR excesses than would be expected based on their UV colors if they obeyed the same relations as starbursts with L_IR < 10^{11}L_0 or normal late-type galaxies. The ratio of L_IR to the value one would estimate from the IRXg-beta relation published for lower luminosity starburst galaxies ranges from 0.2 to 68, with a median value of 2.7. A minimum of 19% of the total IR luminosity in the RBGS is produced in LIRGs and ULIRGs with red UV colors (beta > 0). Among resolved interacting systems, 32% contain one galaxy which dominates the IR emission while the companion dominates the UV emission. Only 21% of the resolved systems contain a single galaxy which dominates both wavelengths.Comment: 37 pages, 10 figures, accepted for publication in Ap

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Constructing Crime in a Database: Big Data and the Mangle of Social Problems Work

This paper argues for programmatic change within social constructionist approaches to social problems by attending to materiality in the theoretical conception of social context. To illustrate how this might be done, we place the interplay between social problems construction and technology (what we refer to as the mangle of social problems work) at its center by examining how the advent of “big data” is impacting the construction of social problems. Using the growing field of intelligence-led policing (ILP) as our illustrative example, we will examine four effects the large scale collection and analysis of data has on the way social problems claims are made. We begin by arguing that big data offers a new method by which putative problems are discovered and legitimized. We then explore how large data sets and algorithmic data analysis are increasingly used for predicting future problems. Following this, we illustrate how big data is used to construct and implement solutions to future problems. Lastly, we use the interplay between big data and those who use it to illustrate “the mangle of social problems work,” where data is made meaningful and actionable through the interpretive and analytic processes of analysts and police officers

Knowledge Mobilization as a Tool of Institutional Governance: Exploring Academics’ Perceptions of “Going Public”

In Canada there are growing discussions concerning the role of publicly funded universities and the impact of academic research. The integration of neoliberal practices and market rationalities place pressure on universities to “go public” in order to demonstrate relevance and accountability. Researchers are encouraged or even required to engage the public through knowledge mobilization activities. Our study provides an empirical analysis of knowledge mobilization in order to understand its perceived impact on public criminology, and more broadly the production and dissemination of criminological research. We argue that the institutional shift toward knowledge mobilization is perceived as a tool of institutional governance to demonstrate organizational accountability that shapes the production and dissemination of criminological knowledge.In Canada there are growing discussions concerning the role of publicly funded universities and the impact of academic research. The integration of neoliberal practices and market rationalities place pressure on universities to “go public” in order to demonstrate relevance and accountability. Researchers are encouraged or even required to engage the public through knowledge mobilization activities. Our study provides an empirical analysis of knowledge mobilization in order to understand its perceived impact on public criminology, and more broadly the production and dissemination of criminological research. We argue that the institutional shift toward knowledge mobilization is perceived as a tool of institutional governance to demonstrate organizational accountability that shapes the production and dissemination of criminological knowledge.Au Canada, il y a des plus en plus de discussions sur le rôle des universités financées par les fonds publics et l’impact de la recherche universitaire. L’intégration des pratiques néolibérales et des rationalités du marché exerce une pression sur les universités pour qu’ils «se rendent publics» afin de démontrer leur pertinence et leur responsabilité. Les chercheurs sont encouragés ou même obligés d’engager le public à travers des activités de mobilisation des connaissances. Notre étude fournit une analyse empirique de la mobilisation des connaissances afin de comprendre son impact perçu sur la criminologie publique, et plus largement la production et la diffusion de la recherche criminologique. Nous soutenons que le changement institutionnel vers la mobilisation des connaissances est perçu comme un outil de gouvernance institutionnelle pour démontrer la responsabilité organisationnelle qui forme à la fois la production et la diffusion des connaissances criminologiques.Au Canada, il y a des plus en plus de discussions sur le rôle des universités financées par les fonds publics et l’impact de la recherche universitaire. L’intégration des pratiques néolibérales et des rationalités du marché exerce une pression sur les universités pour qu’ils «se rendent publics» afin de démontrer leur pertinence et leur responsabilité. Les chercheurs sont encouragés ou même obligés d’engager le public à travers des activités de mobilisation des connaissances. Notre étude fournit une analyse empirique de la mobilisation des connaissances afin de comprendre son impact perçu sur la criminologie publique, et plus largement la production et la diffusion de la recherche criminologique. Nous soutenons que le changement institutionnel vers la mobilisation des connaissances est perçu comme un outil de gouvernance institutionnelle pour démontrer la responsabilité organisationnelle qui forme à la fois la production et la diffusion des connaissances criminologiques