Search results for "1000"
showing 10 items of 101 documents
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.
2016
The growing catalogue of structural variants in humans often overlooks inversions as one of the most difficult types of variation to study, even though they affect phenotypic traits in diverse organisms. Here, we have analysed in detail 90 inversions predicted from the comparison of two independently assembled human genomes: the reference genome (NCBI36/HG18) and HuRef. Surprisingly, we found that two thirds of these predictions (62) represent errors either in assembly comparison or in one of the assemblies, including 27 misassembled regions in HG18. Next, we validated 22 of the remaining 28 potential polymorphic inversions using different PCR techniques and characterized their breakpoints …
Combining multiple hypothesis testing with machine learning increases the statistical power of genome-wide association studies
2016
Mieth, Bettina et al.
Assessing statistical significance in multivariable genome wide association analysis
2016
Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high significance threshold needed to correct for multiple testing, greatly decreases the power of GWAS. Results: We propose a procedure in which all the SNPs are analyzed in a multiple generalized linear model, and we show its use for extremely high-dimensional datasets. Our method yields P-values for assessing significance of single SNPs or groups of SNPs while controlling for all other SNPs and the family wise error rate (FWER). Thus, our method tests whe…
Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe
2019
International audience; Archaeological evidence indicates that pig domestication had begun by ∼10,500 y before the present (BP) in the Near East, and mitochondrial DNA (mtDNA) suggests that pigs arrived in Europe alongside farmers ∼8,500 y BP. A few thousand years after the introduction of Near Eastern pigs into Europe, however, their characteristic mtDNA signature disappeared and was replaced by haplotypes associated with European wild boars. This turnover could be accounted for by substantial gene flow from local Euro-pean wild boars, although it is also possible that European wild boars were domesticated independently without any genetic contribution from the Near East. To test these hyp…
$^{78}$Ni revealed as a doubly magic stronghold against nuclear deformation
2019
Nuclear magic numbers, which emerge from the strong nuclear force based on quantum chromodynamics, correspond to fully occupied energy shells of protons, or neutrons inside atomic nuclei. Doubly magic nuclei, with magic numbers for both protons and neutrons, are spherical and extremely rare across the nuclear landscape. While the sequence of magic numbers is well established for stable nuclei, evidence reveals modifications for nuclei with a large proton-to-neutron asymmetry. Here, we provide the first spectroscopic study of the doubly magic nucleus $^{78}$Ni, fourteen neutrons beyond the last stable nickel isotope. We provide direct evidence for its doubly magic nature, which is also predi…
Management von Kundenbeziehungen durch Brand Communities
2010
Das Marketing wurde in den letzten Jahrzehnten durch die Betrachtung von dyadischen Beziehungen zwischen Anbietern und Nachfragern dominiert (Bruhn/Georgi 2006). Dabei verstand man Transaktionen zunachst als diskrete (voneinander unabhangige) Ereignisse, spater auch als relationale Phanomene (Bruhn 2002a; 2002b). Die Marketingtheorie und -praxis vernachlassigte (mit wenigen Ausnahmen) jedoch, Interaktionen zwischen Konsumenten zu analysieren. Gerade Begegnungen zwischen Individuen beeinflussen jedoch deren Wahrnehmung, Beurteilung und Akzeptanz von Produkten und Marken (Bearden/Etzel 1982). Die isolierte Betrachtung des Konsumentenverhaltens als Entscheidung Einzelner ist daher um Einflusse…
Retrieving Monitoring and Accounting Information from Constrained Devices in Internet-of-Things Applications
2013
Part 6: Monitoring Mechanisms; International audience; Internet-of-Things (IoT) is envisioned to provide connectivity to a vast number of sensing or actuating devices with limited computational and communication capabilities. For the organizations that manage these constrained devices, the monitoring of each device’s operational status and performance level as well as the accounting of their resource usage are of great importance. However, monitoring and accounting support is lacking in today’s IoT platforms. Hence, this paper studies the applicability of the Constrained Application Protocol (CoAP), a lightweight transfer protocol under development by IETF, for efficiently retrieving monito…
Molecular characterization of Treponema pallidum subsp. pallidum in Switzerland and France with a new multilocus sequence typing scheme
2018
Syphilis is an important public health problem and an increasing incidence has been noted in recent years. Characterization of strain diversity through molecular data plays a critical role in the epidemiological understanding of this re-emergence. We here propose a new high-resolution multilocus sequence typing (MLST) scheme for Treponema pallidum subsp. pallidum (TPA). We analyzed 30 complete and draft TPA genomes obtained directly from clinical samples or from rabbit propagated strains to identify suitable typing loci and tested the new scheme on 120 clinical samples collected in Switzerland and France. Our analyses yielded three loci with high discriminatory power: TP0136, TP0548, and TP…
Screening archaeological bone for palaeogenetic and palaeoproteomic studies.
2020
Funder: FP7 Ideas: European Research Council; funder-id: http://dx.doi.org/10.13039/100011199; Grant(s): 295729
A comparison of performance of Deca Iron and Triple Deca Iron ultra-triathletes
2014
This study intended to compare the performance of ultra-triathletes competing in a Deca Iron ultra-triathlon (i.e. 10 times 3.8 km swimming, 180 km cycling, and 42.2 km running) with the performance of athletes competing in a Triple Deca Iron ultra-triathlon (i.e. 30 times 3.8 km swimming, 180 km cycling, and 42.2 km running). Split and overall race times of six male finishers in a Deca Iron ultra-triathlon and eight male finishers in a Triple Deca Iron ultra-triathlon were analysed using multiple t-tests, linear and non-linear regression analyses, and analysis of variance. Among the 19 starters (i.e. 17 men and two women) in the Deca Iron ultra-triathlon, six men (i.e. 35.3% of all starter…