Hasil untuk "Geography"

S. Cutter, Kevin D. Ash, C. Emrich

W. Jetz, G. Thomas, J. Joy et al.

Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec, G. McVean, David M. Richard M. Gonçalo R. David R. Aravinda Andrew Altshuler (Co-Chair) Durbin (Co-Chair) Abecasis Be et al.

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.

B. Lehner, C. R. Liermann, C. Revenga et al.

A. Peterson, Jorge Soberón, R. Pearson et al.

R. Hijmans

C. Brunsdon, S. Fotheringham, M. Charlton

Jinfeng Wang, Xinhu Li, G. Christakos et al.

Richard H. Ree, Stephen A. Smith

G. Polanczyk, M. S. de Lima, B. Horta et al.

J. Frankel, D. Romer

Steven J. Phillips, R. Anderson, R. Schapire

P. Burrough, R. McDonnell

C. Baskin, J. Baskin

D. Parkin, F. Bray, J. Ferlay et al.

Estimates of the worldwide incidence, mortality and prevalence of 26 cancers in the year 2002 are now available in the GLOBOCAN series of the International Agency for Research on Cancer. The results are presented here in summary form, including the geographic variation between 20 large “areas” of the world. Overall, there were 10.9 million new cases, 6.7 million deaths, and 24.6 million persons alive with cancer (within three years of diagnosis). The most commonly diagnosed cancers are lung (1.35 million), breast (1.15 million), and colorectal (1 million); the most common causes of cancer death are lung cancer (1.18 million deaths), stomach cancer (700,000 deaths), and liver cancer (598,000 deaths). The most prevalent cancer in the world is breast cancer (4.4 million survivors up to 5 years following diagnosis). There are striking variations in the risk of different cancers by geographic area. Most of the international variation is due to exposure to known or suspected risk factors related to lifestyle or environment, and provides a clear challenge to prevention.

N. Brenner, N. Theodore

F. Saussure

Introduction to the Bloomsbury Revelations Edition Preface to the First Edition Preface to the Second Edition Preface to the Third Edition Editor's Introduction, Roy Harris Introduction 1. A Brief Survey of the History of Linguistics 2. Data and Aims of Linguistics: Connexions with Related Sciences 3. The Object of Study 4. Linguistics of Language Structure and Linguistics of Speech 5. Internal and External Elements of a Language 6. Representation of a Language by Writing 7. Physiological Phonetics Appendix: Principles of Physiological Phonetics 1. Sound Types 2. Sounds in Spoken Sequences Part One: General Principles 1. Nature of the Linguistic Sign 2. Invariability and Variability of the Sign 3. Static Linguistics and Evolutionary Linguistics Part Two: Synchronic Linguistics 1. General Observations 2. Concrete Entities of a Language 3. Identities, Realities, Values 4. Linguistic Value 5. Syntagmatic Relations and Associative Relations 6. The Language Mechanism 7. Grammar and Its Subdivisions 8. Abstract Entities in Grammar Part Three: Diachronic Linguistics 1. General Observations 2. Sound Changes 3. Grammatical Consequences of Phonetic Evolution 4. Analogy 5. Analogy and Evolution 6. Popular Etymology 7. Agglutination 8. Diachronic Units,Identities and Realities Appendices Part Four: Geographical Linguistics 1. On the Diversity of Languages 2. Geographical Diversity: Its Complexity 3. Causes of Geographical Diversity 4. Propagation of Linguistic Waves Part Five: Questions of Retrospective Linguistics Conclusion 1. The Two Perspectives of Diachronic Linguistics 2. Earliest Languages and Prototypes 3. Reconstructions 4. Linguistic Evidence in Anthropology and Prehistory 5. Language Families and Linguistic Types Index

D. Niculescu, B. Nath

Glenn Ellison, E. Glaeser

A. Jaffe