A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic variation. Here, we analyse whole genome sequencing data of 769 individuals from 250 Dutch families, and provide a haplotype-resolved map of 1.9 million genome variants across 9 different variant classes, including novel forms of complex indels, and retrotransposition-mediated insertions of mobile elements and processed RNAs. A large proportion are previously under reported variants sized between 21 and 100 bp. We detect 4 megabases of novel sequence, encoding 11 new transcripts. Finally, we show 191 known, trait-associated SNPs to be in strong linkage disequilibrium with SVs and demonstrate that our panel facilitates accurate imputation of SVs in unrelated individuals

Characteristics of de novo structural changes in the human genome

Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (120 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1 kbp of genomic sequence and 29 coding bases per generation, which is 91 and 52 times more nucleotides than de novo substitutions, respectively. This contrasts with the equal genomic footprint of inherited SVs and substitutions. An excess of structural changes originated on paternal haplotypes. Additionally, we observed a nonuniform distribution of de novo SVs across offspring. These results reveal the importance of different mutational mechanisms to changes in human genome structure across generations

A História da Alimentação: balizas historiográficas

Os M. pretenderam traçar um quadro da História da Alimentação, não como um novo ramo epistemológico da disciplina, mas como um campo em desenvolvimento de práticas e atividades especializadas, incluindo pesquisa, formação, publicações, associações, encontros acadêmicos, etc. Um breve relato das condições em que tal campo se assentou faz-se preceder de um panorama dos estudos de alimentação e temas correia tos, em geral, segundo cinco abardagens Ia biológica, a econômica, a social, a cultural e a filosófica!, assim como da identificação das contribuições mais relevantes da Antropologia, Arqueologia, Sociologia e Geografia. A fim de comentar a multiforme e volumosa bibliografia histórica, foi ela organizada segundo critérios morfológicos. A seguir, alguns tópicos importantes mereceram tratamento à parte: a fome, o alimento e o domínio religioso, as descobertas européias e a difusão mundial de alimentos, gosto e gastronomia. O artigo se encerra com um rápido balanço crítico da historiografia brasileira sobre o tema

Policy complementarities The case for fundamental labour market reform

SIGLEAvailable from British Library Document Supply Centre-DSC:3597.9512(CEPR-DP--1585) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Policy complementarities The case for fundamental labour market reform

SIGLEAvailable from British Library Document Supply Centre-DSC:3597.9148(25/96) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

International R&D spillovers

SIGLEAvailable from British Library Document Supply Centre- DSC:3597.9512(CEPR-DP--840) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

R&D spillovers and global growth

SIGLEAvailable from British Library Document Supply Centre-DSC:3597.9512(CEPR-DP--1467) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Productivity and Microeconomic Reforms: Strengthening EU Competitiveness

This paper argues that standards of living are a meaningful measure of competitiveness. It views comparisons with the performance of other regions, and in particular with the US, as an evaluation of the distance to the “technology frontier” and the potential for improvements. Productivity and external competitiveness developments are reviewed from a sectoral perspective. A forward looking dimension is given by a brief presentation of the revised “Lisbon Strategy” and the new industrial policy approach proposed by the European Commission. Copyright Springer Science + Business Media, LLC 2006competitiveness, productivity, Lisbon strategy, O40, F14, C68 (or D58),