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result(s) for
"Sodini, Sebastian M"
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Comparison of Genotypic and Phenotypic Correlations: Cheverud’s Conjecture in Humans
by
Trzaskowski, Maciej
,
Kemper, Kathryn E
,
Wray, Naomi R
in
Animal species
,
Anthropology
,
Bioinformatics
2018
Cheverud’s conjecture asserts that the use of phenotypic correlations as proxies for genetic correlations in situations where genetic data is not available is appropriate. Although empirical evidence for this has been found across... Accurate estimation of genetic correlation requires large sample sizes and access to genetically informative data, which are not always available. Accordingly, phenotypic correlations are often assumed to reflect genotypic correlations in evolutionary biology. Cheverud’s conjecture asserts that the use of phenotypic correlations as proxies for genetic correlations is appropriate. Empirical evidence of the conjecture has been found across plant and animal species, with results suggesting that there is indeed a robust relationship between the two. Here, we investigate the conjecture in human populations, an analysis made possible by recent developments in availability of human genomic data and computing resources. A sample of 108,035 British European individuals from the UK Biobank was split equally into discovery and replication datasets. Seventeen traits were selected based on sample size, distribution, and heritability. Genetic correlations were calculated using linkage disequilibrium score regression applied to the genome-wide association summary statistics of pairs of traits, and compared within and across datasets. Strong and significant correlations were found for the between-dataset comparison, suggesting that the genetic correlations from one independent sample were able to predict the phenotypic correlations from another independent sample within the same population. Designating the selected traits as morphological or nonmorphological indicated little difference in correlation. The results of this study support the existence of a relationship between genetic and phenotypic correlations in humans. This finding is of specific interest in anthropological studies, which use measured phenotypic correlations to make inferences about the genetics of ancient human populations.
Journal Article
Comparison of Genotypic and Phenotypic Correlations: Cheverud’s Conjecture in Humans
2018
Accurate estimation of genetic correlation requires large sample sizes and access to genetically informative data, which are not always available. Accordingly, phenotypic correlations are often assumed to reflect genotypic correlations in evolutionary biology. Cheverud’s conjecture asserts that the use of phenotypic correlations as proxies for genetic correlations is appropriate. Empirical evidence of the conjecture has been found across plant and animal species, with results suggesting that there is indeed a robust relationship between the two. Here, we investigate the conjecture in human populations, an analysis made possible by recent developments in availability of human genomic data and computing resources. A sample of 108,035 British European individuals from the UK Biobank was split equally into discovery and replication datasets. 17 traits were selected based on sample size, distribution and heritability. Genetic correlations were calculated using linkage disequilibrium score regression applied to the genome-wide association summary statistics of pairs of traits, and compared within and across datasets. Strong and significant correlations were found for the between-dataset comparison, suggesting that the genetic correlations from one independent sample were able to predict the phenotypic correlations from another independent sample within the same population. Designating the selected traits as morphological or non-morphological indicated little difference in correlation. The results of this study support the existence of a relationship between genetic and phenotypic correlations in humans. This finding is of specific interest in anthropological studies, which use measured phenotypic correlations to make inferences about the genetics of ancient human populations.
Comparison of Genotypic and Phenotypic Correlations: Cheverud s Conjecture in Humans
by
Kemper, Kathryn E
,
Wray, Naomi R
,
Trzaskowski, Maciej
in
Genomes
,
Heritability
,
Independent sample
2018
Accurate estimation of genetic correlation requires large sample sizes and access to genetically informative data, which are not always available. Accordingly, phenotypic correlations are often assumed to reflect genotypic correlations in evolutionary biology. Cheverud s conjecture asserts that the use of phenotypic correlations as proxies for genetic correlations is appropriate. Empirical evidence of the conjecture has been found across plant and animal species, with results suggesting that there is indeed a robust relationship between the two. Here, we investigate the conjecture in human populations, an analysis made possible by recent developments in availability of human genomic data and computing resources. A sample of 108,035 British European individuals from the UK Biobank was split equally into discovery and replication datasets. 17 traits were selected based on sample size, distribution and heritability. Genetic correlations were calculated using linkage disequilibrium score regression applied to the genome-wide association summary statistics of pairs of traits, and compared within and across datasets. Strong and significant correlations were found for the between-dataset comparison, suggesting that the genetic correlations from one independent sample were able to predict the phenotypic correlations from another independent sample within the same population. Designating the selected traits as morphological or non-morphological indicated little difference in correlation. The results of this study support the existence of a relationship between genetic and phenotypic correlations in humans. This finding is of specific interest in anthropological studies, which use measured phenotypic correlations to make inferences about the genetics of ancient human populations.
XQR-30: the ultimate XSHOOTER quasar sample at the reionization epoch
by
Gallerani, S
,
Sebastian, A
,
Zanchettin, M V
in
Absorption spectra
,
Data reduction
,
Emission spectra
2023
The final phase of the reionization process can be probed by rest-frame UV absorption spectra of quasars at z>6, shedding light on the properties of the diffuse intergalactic medium within the first Gyr of the Universe. The ESO Large Programme \"XQR-30: the ultimate XSHOOTER legacy survey of quasars at z~5.8-6.6\" dedicated ~250 hours of observations at the VLT to create a homogeneous and high-quality sample of spectra of 30 luminous quasars at z~6, covering the rest wavelength range from the Lyman limit to beyond the MgII emission. Twelve quasar spectra of similar quality from the XSHOOTER archive were added to form the enlarged XQR-30 sample, corresponding to a total of ~350 hours of on-source exposure time. The median effective resolving power of the 42 spectra is R~11400 and 9800 in the VIS and NIR arm, respectively. The signal-to-noise ratio per 10 km/s pixel ranges from ~11 to 114 at \\(\\lambda \\simeq 1285\\) \\AA rest frame, with a median value of ~29. We describe the observations, data reduction and analysis of the spectra, together with some first results based on the E-XQR-30 sample. New photometry in the H and K bands are provided for the XQR-30 quasars, together with composite spectra whose characteristics reflect the large absolute magnitudes of the sample. The composite and the reduced spectra are released to the community through a public repository, and will enable a range of studies addressing outstanding questions regarding the first Gyr of the Universe.