13 research outputs found
Cosmological Constraints from the SDSS Luminous Red Galaxies
We measure the large-scale real-space power spectrum P(k) using luminous red
galaxies (LRGs) in the Sloan Digital Sky Survey (SDSS) and use this measurement
to sharpen constraints on cosmological parameters from the Wilkinson Microwave
Anisotropy Probe (WMAP). We employ a matrix-based power spectrum estimation
method using Pseudo-Karhunen-Loeve eigenmodes, producing uncorrelated
minimum-variance measurements in 20 k-bands of both the clustering power and
its anisotropy due to redshift-space distortions, with narrow and well-behaved
window functions in the range 0.01h/Mpc < k < 0.2h/Mpc. Results from the LRG
and main galaxy samples are consistent, with the former providing higher
signal-to-noise. Our results are robust to omitting angular and radial density
fluctuations and are consistent between different parts of the sky. They
provide a striking confirmation of the predicted large-scale LCDM power
spectrum.
Combining only SDSS LRG and WMAP data places robust constraints on many
cosmological parameters that complement prior analyses of multiple data sets.
The LRGs provide independent cross-checks on Om and the baryon fraction in good
agreement with WMAP. Within the context of flat LCDM models, our LRG
measurements complement WMAP by sharpening the constraints on the matter
density, the neutrino density and the tensor amplitude by about a factor of
two, giving Omega_m=0.24+-0.02 (1 sigma), sum m_nu < 0.9 eV (95%) and r<0.3
(95%). Baryon oscillations are clearly detected and provide a robust
measurement of the comoving distance to the median survey redshift z=0.35
independent of curvature and dark energy properties. Within the LCDM framework,
our power spectrum measurement improves the evidence for spatial flatness,
sharpening the curvature constraint Omega_tot=1.05+-0.05 from WMAP alone to
Omega_tot=1.003+-0.010. Assuming Omega_tot=1, the equation of state parameter
is constrained to w=-0.94+-0.09, indicating the potential for more ambitious
future LRG measurements to provide precision tests of the nature of dark
energy. All these constraints are essentially independent of scales k>0.1h/Mpc
and associated nonlinear complications, yet agree well with more aggressive
published analyses where nonlinear modeling is crucial.Comment: Matches accepted PRD version. SDSS data, likelihood code, Markov
chains and ppt figures available at
http://space.mit.edu/home/tegmark/sdss.html 36 journal pages, 25 figs.
CosmoMC plugin at http://cosmologist.info/cosmomc
Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 Ă— 10-3, two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 Ă— 10-2, two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 Ă— 10-4, two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10(-3), two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10(-2), two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.publisher: Elsevier
articletitle: Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
journaltitle: The American Journal of Human Genetics
articlelink: http://dx.doi.org/10.1016/j.ajhg.2015.03.007
content_type: article
copyright: Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.status: publishe
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Cosmological constraints from the SDSS luminous red galaxies
We measure the large-scale real-space power spectrum P(k) using luminous red galaxies (LRGs) in the Sloan Digital Sky Survey (SDSS) and use this measurement to sharpen constraints on cosmological parameters from the Wilkinson Microwave Anisotropy Probe (WMAP). We employ a matrix-based power spectrum estimation method using Pseudo-Karhunen-Loeve eigenmodes, producing uncorrelated minimum-variance measurements in 20 k-bands of both the clustering power and its anisotropy due to redshift-space distortions, with narrow and well-behaved window functions in the range 0.01h/Mpc < k < 0.2h/Mpc. Results from the LRG and main galaxy samples are consistent, with the former providing higher signal-to-noise. Our results are robust to omitting angular and radial density fluctuations and are consistent between different parts of the sky. They provide a striking confirmation of the predicted large-scale LCDM power spectrum.
Combining only SDSS LRG and WMAP data places robust constraints on many cosmological parameters that complement prior analyses of multiple data sets. The LRGs provide independent cross-checks on Om and the baryon fraction in good agreement with WMAP. Within the context of flat LCDM models, our LRG measurements complement WMAP by sharpening the constraints on the matter density, the neutrino density and the tensor amplitude by about a factor of two, giving Omega_m=0.24+-0.02 (1 sigma), sum m_nu 0.1h/Mpc and associated nonlinear complications, yet agree well with more aggressive published analyses where nonlinear modeling is crucial.Astronom