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Search Results: 1 - 10 of 126021 matches for " Elizabeth T Cirulli "
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Individual Variation in Contagious Yawning Susceptibility Is Highly Stable and Largely Unexplained by Empathy or Other Known Factors
Alex J. Bartholomew, Elizabeth T. Cirulli
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0091773
Abstract: The contagious aspect of yawning is a well-known phenomenon that exhibits variation in the human population. Despite the observed variation, few studies have addressed its intra-individual reliability or the factors modulating differences in the susceptibility of healthy volunteers. Due to its obvious biological basis and impairment in diseases like autism and schizophrenia, a better understanding of this trait could lead to novel insights into these conditions and the general biological functioning of humans. We administered 328 participants a 3-minute yawning video stimulus, a cognitive battery, and a comprehensive questionnaire that included measures of empathy, emotional contagion, circadian energy rhythms, and sleepiness. Individual contagious yawning measurements were found to be highly stable across testing sessions, both in a lab setting and if administered remotely online, confirming that certain healthy individuals are less susceptible to contagious yawns than are others. Additionally, most individuals who failed to contagiously yawn in our study were not simply suppressing their reaction, as they reported not even feeling like yawning in response to the stimulus. In contrast to previous studies indicating that empathy, time of day, or intelligence may influence contagious yawning susceptibility, we found no influence of these variables once accounting for the age of the participant. Participants were less likely to show contagious yawning as their age increased, even when restricting to ages of less than 40 years. However, age was only able to explain 8% of the variability in the contagious yawn response. The vast majority of the variability in this extremely stable trait remained unexplained, suggesting that studies of its inheritance are warranted.
A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans
Anna C Need, Dalia Kasperavi?iūt, Elizabeth T Cirulli, David B Goldstein
Genome Biology , 2009, DOI: 10.1186/gb-2009-10-1-r7
Abstract: Using a principal components analysis, we found that the individuals with full Jewish ancestry formed a clearly distinct cluster from those individuals with no Jewish ancestry. Using the position on the first principal component axis, every single individual with self-reported full Jewish ancestry had a higher score than any individual with no Jewish ancestry.Here we show that within Americans of European ancestry there is a perfect genetic corollary of Jewish ancestry which, in principle, would permit near perfect genetic inference of Ashkenazi Jewish ancestry. In fact, even subjects with a single Jewish grandparent can be statistically distinguished from those without Jewish ancestry. We also found that subjects with Jewish ancestry were slightly more heterozygous than the subjects with no Jewish ancestry, suggesting that the genetic distinction between Jews and non-Jews may be more attributable to a Near-Eastern origin for Jewish populations than to population bottlenecks.Many genetic and non-genetic lines of evidence make clear that there are differences amongst the Jewish and non-Jewish peoples of Europe. There are both specific genetic diseases (for example, Tay-Sachs) and particular mutations (for example, the breast cancer BRCA1 185delAG mutation) that have considerably higher incidences in Jewish populations, and both Y chromosome and mitochondrial DNA lineages show associations with Jewish heritage [1-5]. No study, however, has directly addressed the question of whether Jewish individuals form a consistently identifiable group on the basis of genetic data alone, as has been documented for other racial/ethnic groups [6]. Recently, Price et al. [7] showed that self-described Jewish ancestry was a major determinant of population genetic structure in European populations, but they did not address the question of whether genetic data might be able to accurately identify which individuals do and do not have Jewish ancestry. Here we investigate whether it is poss
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
Elizabeth T Cirulli, Abanish Singh, Kevin V Shianna, Dongliang Ge, Jason P Smith, Jessica M Maia, Erin L Heinzen, James J Goedert, David B Goldstein, the Center for HIV/AIDS Vaccine Immunology (CHAVI)
Genome Biology , 2010, DOI: 10.1186/gb-2010-11-5-r57
Abstract: Here we provide a systematic exploration of how well RNA-Seq can identify human coding variants by comparing variants identified through high coverage whole-genome sequencing to those identified by high coverage RNA-Seq in the same individual. This comparison allowed us to directly evaluate the sensitivity and specificity of RNA-Seq in identifying coding variants, and to evaluate how key parameters such as the degree of coverage and the expression levels of genes interact to influence performance. We find that although only 40% of exonic variants identified by whole genome sequencing were captured using RNA-Seq; this number rose to 81% when concentrating on genes known to be well-expressed in the source tissue. We also find that a high false positive rate can be problematic when working with RNA-Seq data, especially at higher levels of coverage.We conclude that as long as a tissue relevant to the trait under study is available and suitable quality control screens are implemented, RNA-Seq is a fast and inexpensive alternative approach for finding coding variants in genes with sufficiently high expression levels.The study of common human diseases is rapidly moving away from an exclusive focus on common variants using genome-wide association studies and toward sequencing approaches that represent most variants, including those that are rare in the general population.Although rapidly falling, the per base costs of next generation sequencing platforms still preclude the generation of large sample sizes of entirely sequenced genomes at high coverage. In addition to this economic constraint, it is widely appreciated that the very large number of variants identified in such studies will make it difficult to use association evidence alone to identify causal sites. For these reasons, there has been considerable interest in focusing attention on coding variants as a first step at complete representation of human variation. Part of the motivation for this approach stems from th
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
Nara L. M. Sobreira equal contributor,Elizabeth T. Cirulli equal contributor,Dimitrios Avramopoulos equal contributor,Elizabeth Wohler,Gretchen L. Oswald,Eric L. Stevens,Dongliang Ge,Kevin V. Shianna,Jason P. Smith,Jessica M. Maia,Curtis E. Gumbs,Jonathan Pevsner,George Thomas,David Valle ?,Julie E. Hoover-Fong ?,David B. Goldstein ?
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1000991
Abstract: Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing technologies to rapidly indentify most of the genetic variants in any given genome opens an exciting opportunity to identify these disease genes. Here we sequenced the whole genome of a single patient with the dominant Mendelian disease, metachondromatosis (OMIM 156250), and used partial linkage data from her small family to focus our search for the responsible variant. In the proband, we identified an 11 bp deletion in exon four of PTPN11, which alters frame, results in premature translation termination, and co-segregates with the phenotype. In a second metachondromatosis family, we confirmed our result by identifying a nonsense mutation in exon 4 of PTPN11 that also co-segregates with the phenotype. Sequencing PTPN11 exon 4 in 469 controls showed no such protein truncating variants, supporting the pathogenicity of these two mutations. This combination of a new technology and a classical genetic approach provides a powerful strategy to discover the genes responsible for unexplained Mendelian disorders.
The Characterization of Twenty Sequenced Human Genomes
Kimberly Pelak equal contributor,Kevin V. Shianna equal contributor,Dongliang Ge equal contributor,Jessica M. Maia,Mingfu Zhu,Jason P. Smith,Elizabeth T. Cirulli,Jacques Fellay,Samuel P. Dickson,Curtis E. Gumbs,Erin L. Heinzen,Anna C. Need,Elizabeth K. Ruzzo,Abanish Singh,C. Ryan Campbell,Linda K. Hong,Katharina A. Lornsen,Alexander M. McKenzie,Nara L. M. Sobreira,Julie E. Hoover-Fong,Joshua D. Milner,Ruth Ottman,Barton F. Haynes,James J. Goedert,David B. Goldstein
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1001111
Abstract: We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten “case” genomes from individuals with severe hemophilia A and ten “control” genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.
Continuously Variable Bandwidth Sharp FIR Filters with Low Complexity  [PDF]
James T. George, Elizabeth Elias
Journal of Signal and Information Processing (JSIP) , 2012, DOI: 10.4236/jsip.2012.33040
Abstract: In software defined radio (SDR), sharp filters of different bandwidth are required to fine tune the desired channel. This requires different computational resources and large number of filter coefficients. This paper proposes a continuously variable bandwidth sharp finite impulse response (FIR) filter with low distortion and low complexity. For this, a fixed length FIR filter is used with two arbitrary sampling rate converters. This system can be used for both the continuous increase as well as decrease of the effective bandwidth of a filter. The low complexity and sharpness are achieved by using the frequency-response masking (FRM) approach for the design of the fixed length FIR filter. The sharp transition width leads to maximum rejection to channel interference in SDR.
Common Genetic Variation and the Control of HIV-1 in Humans
Jacques Fellay equal contributor,Dongliang Ge equal contributor,Kevin V. Shianna,Sara Colombo,Bruno Ledergerber,Elizabeth T. Cirulli,Thomas J. Urban,Kunlin Zhang,Curtis E. Gumbs,Jason P. Smith,Antonella Castagna,Alessandro Cozzi-Lepri,Andrea De Luca,Philippa Easterbrook,Huldrych F. Günthard,Simon Mallal,Cristina Mussini,Judith Dalmau,Javier Martinez-Picado,José M. Miro,Niels Obel,Steven M. Wolinsky,Jeremy J. Martinson,Roger Detels,Joseph B. Margolick,Lisa P. Jacobson,Patrick Descombes,Stylianos E. Antonarakis,Jacques S. Beckmann,Stephen J. O'Brien,Norman L. Letvin,Andrew J. McMichael,Barton F. Haynes,Mary Carrington,Sheng Feng,Amalio Telenti ,David B. Goldstein ,NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)
PLOS Genetics , 2009, DOI: 10.1371/journal.pgen.1000791
Abstract: To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC). We also examined the polymorphisms reported in previous candidate gene studies and fail to support a role for any variant outside of the MHC or the chemokine receptor cluster on chromosome 3. In addition, we evaluated functional variants, copy-number polymorphisms, epistatic interactions, and biological pathways. This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians.
Attention deficit hyperactivity disorder secondary to lesion of the basal ganglia  [PDF]
Giovanni Mazzotta, Lucia Lucia Cirulli, Marco Sposato, Domenico Serino
World Journal of Neuroscience (WJNS) , 2012, DOI: 10.4236/wjns.2012.21007
Abstract: Attention Deficit Hyperactivity Disorder (ADHD) is a childhood onset autoregulation disorder characterized by attention deficit, hyperactivity and/or impul- siveness, which results in social and academic functional impairment. ADHD has a complex aetiology: along with genetic factors, anomalies in several cere-bral districts have been reported. We describe the case of a 9 year old boy with glucose-6-phosphate dehydrogenase deficiency in association with memory, behavioural and attentive disabilities. The patient’s clinical history is characterized by cerebral stroke at 3 years of age during a febrile episode, resulted in slight hemiparesis. Neuroimaging revealed a cystic lesion in the anterior portion of the right lenticular nucleus. Neuropsychological and psychiatric assess- ment evidenced alterations of executive functions. Diagnosis of ADHD secondary to lesion of the basal ganglia was made. We report the patient’s clinical profile in the light of current evidence pointing towards dysfunction of the basal ganglia as a crucial aetiological factor in memory and executive function impairment.
Arias,Elizabeth T.;
Gayana (Concepción) , 2001, DOI: 10.4067/S0717-65382001000200005
Abstract: the new genus lynnyella is here described. the type species for the genus lynnyella is deromecus suturalis (candèze 1865). the new genus lynnyella belongs to the tribe pomachiliini and includes: l. suturalis (candèze 1865) n. comb., l. concepcionensis arias n. sp., l. diegoi arias n. sp., l. gerhardtae arias n. sp., l. juanjoseorum arias n. sp., l. longaviensis arias n. sp., and l. valenciai arias n. sp. the genus lynnyella is distributed in central and southern chile. the geographic distributions of these species are mapped and a key is provided
Elizabeth T. Arias
Gayana (Concepción) , 2001,
Abstract: The new genus Lynnyella is here described. The type species for the genus Lynnyella is Deromecus suturalis (Candèze 1865). The new genus Lynnyella belongs to the tribe Pomachiliini and includes: L. suturalis (Candèze 1865) n. comb., L. concepcionensis Arias n. sp., L. diegoi Arias n. sp., L. gerhardtae Arias n. sp., L. juanjoseorum Arias n. sp., L. longaviensis Arias n. sp., and L. valenciai Arias n. sp. The genus Lynnyella is distributed in Central and Southern Chile. The geographic distributions of these species are mapped and a key is provided Se describe Lynnyella, nuevo género de Elateridae para Chile, el cual tiene como especie tipo a Deromecus suturalis Candèze 1865. Este género pertenece a la tribu Pomachiliini, e incluye las siguientes especies: L. suturalis n. comb., L. concepcionensis Arias n. sp., L. diegoi Arias n. sp., L. gerhardtae Arias n. sp., L. juanjoseorum Arias n. sp., L. longaviensis Arias n. sp., y L. valenciai Arias n. sp. Las especies del género Lynnyella se encuentran distribuidas en la zona centro y sur de Chile. Se proporciona un mapa con la distribución geográfica para las especies mencionadas y una clave de éstas
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