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Author: Aatish Bhatia
Publisher:
ISBN:
Category : Genetics
Languages : en
Pages : 109
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Book Description
I report on three studies where I identify signatures of natural selection in humans, and dissect the genetic architecture of complex phenotypic traits in yeast. In chapter 2, I discuss the results of a quantitative trait mapping study, where we showed that yeast growth can be characterized by multiple biologically-relevant growth parameters obtained by fitting yeast growth OD data to a sigmoid function. We identified quantita- tive trait loci (QTL) and gene-gene interactions driving variation in these yeast growth parameters. We analyzed the environment dependence of these QTLs and gene-gene interactions, and identified a common gene, FLO8, which interacts with other genes in an environment specific fashion to affect distinct growth phenotypes. In chapter 3, I describe our published study where we applied quantitative trait locus mapping to wildtype yeast strains, and identified linked clusters of genetic variants that contributed to variation in the sporulation efficiency of these strains. In chapter 4, I describe our work on identifying signatures of natural selection in the human lineage, specifically in the Maasai people in East Africa. Our work suggests that the Maasai have under- gone recent diet induced positive natural selection that may confer protection against hyperlipidemia and cardiac diseases.
Author: Aatish Bhatia
Publisher:
ISBN:
Category : Genetics
Languages : en
Pages : 109
Get Book Here
Book Description
I report on three studies where I identify signatures of natural selection in humans, and dissect the genetic architecture of complex phenotypic traits in yeast. In chapter 2, I discuss the results of a quantitative trait mapping study, where we showed that yeast growth can be characterized by multiple biologically-relevant growth parameters obtained by fitting yeast growth OD data to a sigmoid function. We identified quantita- tive trait loci (QTL) and gene-gene interactions driving variation in these yeast growth parameters. We analyzed the environment dependence of these QTLs and gene-gene interactions, and identified a common gene, FLO8, which interacts with other genes in an environment specific fashion to affect distinct growth phenotypes. In chapter 3, I describe our published study where we applied quantitative trait locus mapping to wildtype yeast strains, and identified linked clusters of genetic variants that contributed to variation in the sporulation efficiency of these strains. In chapter 4, I describe our work on identifying signatures of natural selection in the human lineage, specifically in the Maasai people in East Africa. Our work suggests that the Maasai have under- gone recent diet induced positive natural selection that may confer protection against hyperlipidemia and cardiac diseases.
Author: Roy Ronen
Publisher:
ISBN: 9781321452006
Category :
Languages : en
Pages : 142
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Book Description
Despite being founded in the early 1920's, the field of Population and Evolutionary Genetics is currently in its second life. This is primarily driven by the recent data influx from genomic studies of ever-increasing size. The shear amount and complexity of data produced by these studies is also creating a need for improved computational techniques to be used for analysis and inference. In this thesis, I present three computational methods that are aimed at improving our understanding of genetic variation in natural populations. First, I present an algorithm for improving the accuracy of genome assemblies using the positional de Bruijn graph. I show that, using the original sequence reads in conjunction with a novel data structure, I can significantly improve the accuracy of assembled draft genomes. Necessarily, this leads to improved accuracy of all downstream inferences that use the draft as a reference, including gene discovery, transcript expression, variant calling, and many others. Second, I describe a computational framework that uses supervised learning of mutation frequency profiles to identify genomic regions impacted by positive natural selection. This is desirable, as it allows pinpointing and understanding the mechanisms responsible for adaptive traits, such as lactose tolerance in northern European populations, hypoxia tolerance in high altitude populations, and malaria resistance in African populations. Extending the widely used theoretical framework of the site frequency spectrum (SFS), I show that higher power to detect selection is achieved by training parameter-specific models of the SFS. I further show that these models can be generalized, allowing their use without prior knowledge. Last, I describe a new statistic that naturally captures many of the properties shared by haplotypes carrying an adaptive allele. I provide a theoretical model for the behavior of the statistic under different demographic and evolutionary scenarios, and validate the model using simulated data. Using this framework, I develop an algorithm that - given a region we know to be under positive selection - predicts carriers of the adaptive mutation without knowing its position. I demonstrate its high accuracy on simulated data, as well as on genetic data from well-known instances of positive selection in human populations.
Author: David J. Balding
Publisher: John Wiley & Sons
ISBN: 1119429250
Category : Science
Languages : en
Pages : 1828
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Book Description
A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.
Author: Julien Y Dutheil
Publisher:
ISBN: 9781013271403
Category : Science
Languages : en
Pages : 464
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Book Description
This open access volume presents state-of-the-art inference methods in population genomics, focusing on data analysis based on rigorous statistical techniques. After introducing general concepts related to the biology of genomes and their evolution, the book covers state-of-the-art methods for the analysis of genomes in populations, including demography inference, population structure analysis and detection of selection, using both model-based inference and simulation procedures. Last but not least, it offers an overview of the current knowledge acquired by applying such methods to a large variety of eukaryotic organisms. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, pointers to the relevant literature, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Statistical Population Genomics aims to promote and ensure successful applications of population genomic methods to an increasing number of model systems and biological questions. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.
Author: Warren J. Ewens
Publisher: Springer Science & Business Media
ISBN: 038721822X
Category : Science
Languages : en
Pages : 435
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Book Description
This is the first of a planned two-volume work discussing the mathematical aspects of population genetics with an emphasis on evolutionary theory. This volume draws heavily from the author’s 1979 classic, but it has been revised and expanded to include recent topics which follow naturally from the treatment in the earlier edition, such as the theory of molecular population genetics.
Author: Roberto Salguero-Gomez
Publisher: Oxford University Press
ISBN: 0198838603
Category : Science
Languages : en
Pages : 401
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Book Description
Demography is everywhere in our lives: from birth to death. Indeed, the universal currencies of survival, development, reproduction, and recruitment shape the performance of all species, from microbes to humans. The number of techniques for demographic data acquisition and analyses across the entire tree of life (microbes, fungi, plants, and animals) has drastically increased in recent decades. These developments have been partially facilitated by the advent of technologies such as GIS and drones, as well as analytical methods including Bayesian statistics and high-throughput molecular analyses. However, despite the universality of demography and the significant research potential that could emerge from unifying: (i) questions across taxa, (ii) data collection protocols, and (iii) analytical tools, demographic methods to date have remained taxonomically siloed and methodologically disintegrated. This is the first book to attempt a truly unified approach to demography and population ecology in order to address a wide range of questions in ecology, evolution, and conservation biology across the entire spectrum of life. This novel book provides the reader with the fundamentals of data collection, model construction, analyses, and interpretation across a wide repertoire of demographic techniques and protocols. It introduces the novice demographer to a broad range of demographic methods, including abundance-based models, life tables, matrix population models, integral projection models, integrated population models, individual based models, and more. Through the careful integration of data collection methods, analytical approaches, and applications, clearly guided throughout with fully reproducible R scripts, the book provides an up-to-date and authoritative overview of the most popular and effective demographic tools. Demographic Methods across the Tree of Life is aimed at graduate students and professional researchers in the fields of demography, ecology, animal behaviour, genetics, evolutionary biology, mathematical biology, and wildlife management.
Author: Mario A. Fares
Publisher: CRC Press
ISBN: 1482263734
Category : Science
Languages : en
Pages : 277
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Book Description
This book summarizes the knowledge in the field of methods to identify signatures of natural selection. A number of mathematical models and methods have been designed to identify the fingerprints of natural selection on genes and genomes. Such methods are provided in a simple and direct way so that students of different disciplines can navigate thr
Author: Julie Marie Granka
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Organismic evolution involves both selective and neutral forces, although their relative contributions are often unknown. This thesis proposes novel statistical methods for analyzing genetic data from a variety of organisms, including yeast, Mycobacterium tuberculosis, and humans. The chapters of this thesis provide complimentary perspectives on the relative roles of selection and neutrality, from the molecular to the population level, and present various statistical tools for genetic data analysis. Chapter 2 proposes a maximum-likelihood based method with which to classify and identify interactions, or epistasis, between pairs of genes. Chapter 3 details a study of genetic data from Mycobacterium tuberculosis isolated from human Aboriginal Canadian communities; our analyses suggest that the bacterium spread to these communities via the Canadian fur trade in the 18th and 19th centuries. Chapter 4 discusses the detection of signatures of natural selection in the genomes of 12 diverse African human populations, and proposes novel considerations for identifying biological functions under selection and for comparing signals of selection between populations. Finally, Chapter 5 details the inference of the genetic basis and evolutionary history of light skin pigmentation and short stature in the genetically diverse ≠Khomani Bushmen of the Kalahari Desert of South Africa, believed to be one of the world's most ancient human populations. These chapters emphasize that a more complete understanding of the evolutionary history of humans and other organisms requires not only the consideration of neutral and selective processes, but also both phenotypic and genetic information. The statistical methods and approaches presented in the following chapters have the potential to improve inferences of natural selection and demography from genetic data, as well as provide insight into the relative roles of both.
Author: Brian Charlesworth
Publisher: Roberts
ISBN:
Category : Science
Languages : en
Pages : 776
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Book Description
This textbook shows readers how models of the genetic processes involved in evolution are made (including natural selection, migration, mutation, and genetic drift in finite populations), and how the models are used to interpret classical and molecular genetic data. The material is intended for advanced level undergraduate courses in genetics and evolutionary biology, graduate students in evolutionary biology and human genetics, and researchers in related fields who wish to learn evolutionary genetics. The topics covered include genetic variation, DNA sequence variability and its measurement, the different types of natural selection and their effects (e.g. the maintenance of variation, directional selection, and adaptation), the interactions between selection and mutation or migration, the description and analysis of variation at multiple sites in the genome, genetic drift, and the effects of spatial structure.
Author: Luigi Luca Cavalli-Sforza
Publisher: Courier Corporation
ISBN: 0486406938
Category : Science
Languages : en
Pages : 994
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Book Description
Comprehensive, advanced treatment of nature and source of inherited characteristics, with treatment of mathematical techniques. Mendelian populations, mutations, polymorphisms, genetic demography, much more. Emphasizes interpretation of data in relation to theoretical models.
