Live Chat
Today's Hours: 12:00pm - 8:00pm
Lane Medical Library

Search

Filter Results

Did You Mean:

Search Results

Sort by
relevance
  • Book
    Kirk E. Lohmueller, Rasmus Nielsen, editors.
    Springer Nature eBook.
    Summary: This textbook provides a concise introduction and useful overview of the field of human population genomics, making the highly technical and contemporary aspects more accessible to students and researchers from various fields. Over the past decade, there has been a deluge of genetic variation data from the entire genome of individuals from many populations. These data have allowed an unprecedented look at human history and how natural selection has impacted humans during this journey. Simultaneously, there have been increased efforts to determine how genetic variation affects complex traits in humans. Due to technological and methodological advances, progress has been made at determining the architecture of complex traits. Split in three parts, the book starts with the basics, followed by more advanced and current research. The first part provides an introduction to essential concepts in population genetics, which are relevant for any organism. The second part covers the genetics of complex traits in humans. The third part focuses on applying these techniques and concepts to genetic variation data to learn about demographic history and natural selection in humans. This new textbook aims to serve as a gateway to modern human population genetics research for those new to the field. It provides an indispensable resource for students, researchers and practitioners from disparate areas of expertise.

    Contents:
    Intro
    Preface
    Contents
    Part I Population Genetic Theory
    1 Coalescent Models
    1.1 Aims and Clarifications
    1.2 Introduction: Gene Genealogies Within a Population or Species
    1.2.1 Organismal Pedigrees and Gene Genealogies
    1.3 The Standard Neutral Model: The Kingman Coalescent
    1.3.1 The Sampling Structure of Coalescent Gene Genealogies
    1.3.2 Including Mutations in the Coalescent
    1.4 Fundamental Predictions for Single Loci in Well-Mixed Populations
    1.4.1 The Size and Shape of a Gene Genealogy
    1.4.2 Levels and Patterns of Genetic Variation 1.4.3 Tests of the Standard Neutral Coalescent Based on Site Frequencies
    1.5 Extensions of the Standard Model
    1.5.1 Fluctuations in Population Size over Time
    1.5.2 Population Subdivision and Migration
    1.6 Conclusion: Current Challenges of Big Data
    References
    2 Linkage Disequilibrium
    2.1 Introduction
    2.2 Tests of whether D == 0
    2.3 More than Two Alleles per Locus
    2.4 More than Two Loci: Haplotype Blocks and the HapMap Project
    2.5 Dynamics of D
    2.6 Genetic Drift and LD
    2.7 Genealogical Interpretation of LD
    2.8 Natural Selection and LD 2.9 Genetic Hitchhiking
    2.10 Population Subdivision
    2.11 Conclusion
    References
    3 Analysis of Population Structure
    3.1 What Is Population Structure?
    3.2 Individual-Based and Unsupervised Methods for Inferring Population Structure
    3.2.1 Tree Construction Methods at the Individual Level
    3.2.2 Principal Component Analysis and Related Approaches
    3.2.3 Ancestry Component Estimation with Few Model Assumptions
    3.3 Population-Based and Supervised Methods
    3.3.1 Genetic Differentiation at the Population Level
    3.3.1.1 FST
    3.3.1.2 Other Measures of Genetic Distance 3.3.2 Formal Tests for Admixture Under a Population Tree-Model
    3.3.3 More Advanced Modeling
    3.3.3.1 Population Graph Fitting
    3.3.3.2 Isolation-Migration Models
    3.3.3.3 Approximate Bayesian Computation
    3.4 Summary and Guidelines
    References
    4 Types of Natural Selection and Tests of Selection
    4.1 Types of Selection and Their Effect on Linked Neutral Sites
    4.1.1 Types of Selection
    4.1.2 The Effect of Selection on Linked Neutral Sites
    4.2 Tests of Selection
    4.2.1 Tests of Selection Based on the Site Frequency Spectrum
    4.2.1.1 Tajima's D
    4.2.1.2 Fay and Wu's H 4.2.1.3 Likelihood Ratio Tests
    4.2.2 Tests of Selection Based on Haplotypes
    4.2.2.1 Extended Haplotype Homozygosity (EHH)
    4.2.2.2 Integrated Haplotype Score (iHS)
    4.2.2.3 Cross-Population EHH (XP-EHH)
    4.2.3 Tests Based on both Diversity and Divergence:The McDonald-Kreitman Test
    4.3 How to Choose a Specific Test of Selection?
    References
    Part II Association Studies and Medical Genetics
    5 Methods for Association Studies
    5.1 Introduction
    5.2 Types of Association Studies
    5.2.1 Candidate Gene Studies
    5.2.2 Genome-Wide Association Studies
    5.2.2.1 Background
    Digital Access Springer 2021
  • Article
    Pitkäjärvi T, Kyöstilä S, Kontro J, Mattila MJ.
    Ann Clin Res. 1977 Oct;9(5):296-300.
    Fourty-six men and 6 women aged 45 years and having arterial hypertension newly diagnosed at routine medical examinations were given out-patient antihypertensive treatment with prazosin, prazosin + hydrochlorothiazide, or prazosin + hydrochlorothiazide + clonidine. The mean values of blood pressure after the 3-week placebo period were 157/109 mmHg in the supine and 160/115 mmHg in the standing position. Treatment with prazosin (1--2 mg t.i.d.) produced normotension in 4/52 patients only, yet supine diastolic blood pressure and standing blood pressure were significantly lowered within 9 weeks. The addition of hydrochlorothiazide (25 mg daily) for 3 weeks to the regimen led to normotension in 12/46 patients. The remaining 34 patients still having an average supine blood pressure of 152/106 mmHg after prazosin + hydrochlorothiazide, responded well to low doses of clonidine added for 6 weeks to the treatment. Only 7 patients having initially high blood pressure still had a diastolic blood pressure greater than or equal to 100 mmHg at the end of the trial. The subjective side-effects were frequent but mild being roughly similar during placebo and active drug periods, except that fatigue and dry mouth due to clonidine were common, yet tolerable. No "first tablet reactions" to low inital doses of prazosin were found.
    Digital Access Access Options