1,720,959 research outputs found
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Get PDFBackground: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P=9 ×10−6). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a ‘neurodevelopmental hub’ on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
No full textBackground: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the
understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried
by the true risk variants and the corresponding statistical power to observe such effects given the study design and
sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however,
these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15).
Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping
data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide
genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary
statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls).
Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription
factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social
skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia
which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P=9 ×10−6). We further
combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to
identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12
novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a
‘neurodevelopmental hub’ on chromosome 8p11.23.
Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common
variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia
and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4.The Autism Working Group of the Psychiatric Genomics Consortium was
supported by National Institutes of Mental Health (NIMH, USA) grant
MH109539, MH094432 and MH094421 to M.J.D. The ACE Network was
supported by MH081754 and MH100027 to D.H.G. The Autism Genetic
Resource Exchange (AGRE) is a program of Autism Speaks (USA) and was
supported by grant MH081810. The Autism Genome Project (AGP) was
supported by grants from Autism Speaks, the Canadian Institutes of Health
Research (CIHR), Genome Canada, the Health Research Board (Ireland; AUT/
2006/1, AUT/2006/2, PD/2006/48), the Hilibrand Foundation (USA), the
Medical Research Council (UK), the National Institutes of Health (USA; the
National Institute of Child Health and Human Development and the National
Institute of Mental Health), the Ontario Genomics Institute, and the
University of Toronto McLaughlin Centre. The Simons Simplex Collection
(SSC) was supported by a grant from the Simons Foundation (SFARI 124827
to the investigators of the Simons Simplex Collection Genetic Consortium);
approved researchers can obtain the SSC population dataset described in
this study (http://sfari.org/resources/sfari-base) by applying at https://
base.sfari.org. The Gene Discovery Project of Johns Hopkins was funded by
MH060007, MH081754, and the Simons Foundation. The MonBos Collection
study was funded in part through a grant from the Autism Consortium of
Boston. Support for the Extreme Discordant Sib-Pair (EDSP) family sample
(part of the MonBos collection) was provided by the NLM Family foundation.
Support for the Massachusetts General Hospital (MGH)–Finnish collaborative
sample was provided by NARSAD. The PAGES collection was funded by
NIMH grant MH097849. The collection of data and biomaterials that participated
in the NIMH Autism Genetics Initiative has been supported by National
Institute of Health grants MH52708, MH39437, MH00219, and MH00980; National
Health Medical Research Council grant 0034328; and by grants from
the Scottish Rite, the Spunk Fund, Inc., the Rebecca and Solomon Baker Fund,
the APEX Foundation, the National Alliance for Research in Schizophrenia and
Affective Disorders (NARSAD), the endowment fund of the Nancy Pritzker Laboratory
(Stanford); and by gifts from the Autism Society of America, the Janet
M. Grace Pervasive Developmental Disorders Fund, and families and friends of
individuals with autism. The iPSYCH project is funded by The Lundbeck Foundation
and the universities and university hospitals of Aarhus and Copenhagen. In
addition, the genotyping of iPSYCH samples was supported by grants from the
Stanley Foundation, the Simons Foundation (SFARI 311789 to MJD), and NIMH
(5U01MH094432-02 to MJD).
The Study to Explore Early Development (SEED) was funded by the Centers
for Disease Control and Prevention (CDC) grants U10DD000180,
U10DD000181, U10DD000182, U10DD000183, U10DD000184, and
U10DD000498.
Statistical analyses were carried out on the Genetic Cluster Computer (http://
www.geneticcluster.org) hosted by SURFsara and financially supported by
the Netherlands Scientific Organization (NWO 480-05-003), along with a
supplement from the Dutch Brain Foundation and the VU University
Amsterdam. Additional statistical analyses were performed and supported by
the Trinity Centre for High Performance Computing (http://www.tchpc.tcd.ie/)
funded through Science Foundation Ireland. Computational support for the
PAGES collection was provided in part through the computational resources
and staff expertise of the Department of Scientific Computing at the Icahn
School of Medicine at Mount Sinai (https://hpc.mssm.edu). Data QC and statistical
analyses of the iPSYCH samples were performed at the high-performance
computing cluster GenomeDK (http://genome.au.dk) at the Center for Integrative
Sequencing, iSEQ, Aarhus University. iSEQ provided computed time, data
storage, and technical support for the study
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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