The Time-Energy Uncertainty Relation

The time energy uncertainty relation has been a controversial issue since the advent of quantum theory, with respect to appropriate formalisation, validity and possible meanings. A comprehensive account of the development of this subject up to the 1980s is provided by a combination of the reviews of Jammer (1974), Bauer and Mello (1978), and Busch (1990). More recent reviews are concerned with different specific aspects of the subject. The purpose of this chapter is to show that different types of time energy uncertainty relation can indeed be deduced in specific contexts, but that there is no unique universal relation that could stand on equal footing with the position-momentum uncertainty relation. To this end, we will survey the various formulations of a time energy uncertainty relation, with a brief assessment of their validity, and along the way we will indicate some new developments that emerged since the 1990s.Comment: 33 pages, Latex. This expanded version (prepared for the 2nd edition of "Time in quantum mechanics") contains minor corrections, new examples and pointers to some additional relevant literatur

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved

Deterioration in Fracture Toughness of 304LN Austenitic Stainless Steel Due to Sensitization

The aim of this report is to examine the influence of sensitization on the mechanical properties of AISI grade 304LN stainless steel with special emphasis on its fracture toughness. A series of stainless steel samples has been sensitized by holding at 1023 K for different time periods ranging from 1 to 100 hours followed by water quenching. The degree of sensitization (DOS) for each type of the varyingly heat-treated samples has been measured by an electrochemical potentiodynamic reactivation (EPR) test. The microstructures of these samples have been characterized by optical metallography, scanning electron microscopy, transmission electron microscopy (TEM), and X-ray diffraction (XRD) analyses, together with measurements of their hardness and tensile properties. The fracture toughness of the samples has been measured by the ball indentation (BI) technique and the results are validated by conducting conventional J-integral tests. It is revealed for the first time that the fracture toughness and ductility of AISI 304LN stainless steel deteriorate significantly with increased DOS, while the tensile strength (TS) values remain almost unaltered. The results have been critically discussed in terms of the depletion of solid solution strengtheners, the nature of the grain boundary precipitations, and the strain-induced martensite formation with the increasing DOS of the 304LN stainless stee

A map of human genome variation from population-scale sequencing

The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10(-8) per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research.Molecular Epidemiolog

A map of human genome variation from population-scale sequencing

The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10(-8) per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research