U.S. flag
      An official website of the United States government, Department of Justice.
        Here's how you know
      Here's how you know**Official websites use .gov**
            
            A **.gov** website belongs to an official government organization in the United States.
      **Secure .gov websites use HTTPS**
            
            A **lock** (
            A locked padlock
            ) or **https://** means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites. Menu

      
        close

            
            
                                              About NIJ
        
                    
  
          About NIJ
      
    
          The NIJ Director
          How NIJ Is Organized
          Mission and Guiding Principles
          Research and Development Process
          Strategic Framework
          Assessments of NIJ
          Annual Reports & Reports to Congress
          Staff Directory
          Funding & Awards
        
                    
  
          Funding & Awards
      
    
          Current Funding
          Forthcoming Funding
          Expired Funding
          Awards: Listing of Funded Projects
          Guidance for Applicants and Awardees
          Fellowship & Student Programs
          Travel Scholarships
          NIJ Challenge Program
          Library & Multimedia
        
                    
  
          Library & Multimedia
      
    
          NIJ Journal
          Podcasts
          Publications Listing
          Multimedia Listing
          Rated Practices on CrimeSolutions
          Rated Programs on CrimeSolutions
          Software & Databases
          Datasets
          Patents
          Topics
        
                    
  
          Topics
      
    
          Article Listing
          Corrections
          Courts
          Crime Prevention
          Crimes
          Drugs and Crime
          Equipment and Technology
          Forensic Sciences
          Youth Justice
          Justice System Reform
          Law Enforcement
          Tribal Crime and Justice
          Victims of Crime
          Events
        
                    
  
          Events
      
    
          NIJ 2024 Research Conference
          Scheduled Events
          On-Demand Events
          Research Meetings & Workshops
          NIJ-Hosted Online Training

                            
                                About
          Contact Us
          Subscribe
          Topics A-Z
                  Share
FacebookXLinkedInRedditPinterestEmail Home
                            Library & Multimedia
 On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
NCJ Number
              255693
Journal

*Genetic Epidemiology* Volume: 42 Issue: 1 Dated: 2018 Pages: 34-48
Author(s)
          Jan. Graffelman;
                        Bruce. S. Weir
Date Published

2018
Length
              15 pages
Annotation
              Since the usual chi-square or exact test for Hardy-Weinberg equilibrium assumes equality of allele frequencies in the sexes, the current article proposes ways to break this interdependence in assumptions of the two tests by proposing an omnibus exact test that can test both hypotheses jointly, as well as a likelihood ratio approach that permits these phenomena to be tested both jointly and separately.
Abstract
              Quality control filtering of genetic data is a crucial procedure in modern genetic studies. Extensive procedures and protocols are used to filter genetic data prior to their use in association tests. Such procedures include, but are not limited to, gender checks, assessment of relatedness between individuals, population substructure investigation, tests for Hardy-Weinberg equilibrium, and missing data analysis. The current project focused on two closely related aspects of the quality control of biallelic genetic markers, the equality of allele frequencies (EAF) in the sexes and Hardy-Weinberg proportions (HWP). Under normal conditions, it is expected that an autosomal genetic marker will have equal allele frequencies in males and females, and that genotype frequencies will agree with the Hardy-Weinberg law. This article indicates that performing the Hardy-Weinberg quality control part in an automated numerical way is not without problems. In this context, the ternary diagram, stratified for males and females, is an excellent graphical tool that contributes to a better understanding of a genetic marker. It is not feasible to inspect all ternary diagrams in a genome-wide association study (GWAS), but it may be feasible to calculate all AICs in order to filter out and inspect those SNPs not corresponding to the (most) expected scenario(s). The authors do not recommend automated elimination of SNPs with unlikely scenarios from GWASs, but rather encourage inspection of significant GWAS findings with the tools described in this article. 7 figures and 2 tables (publisher abstract modified)
      
  
          Additional Details
Grant Number(s)
        2017-DN-BX-0136


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Publication Type
        Research (Applied/Empirical)
                                Report (Study/Research)
                                Report (Grant Sponsored)
                                Program/Project Description


  
  
        
  Award
        Population Genetic Issues for Forensic DNA Profiles
    
  
  
Date Published: January 1, 2018
    
          Downloads
        
                      DOC

Side navigation
  

        

  
  
              NIJ Journal
    
      
            
            
            
      Podcasts
    
      
            
            
            
      Publications Listing
    
      
            
            
            
      Multimedia Listing
    
      
            
            
            
      Rated Practices on CrimeSolutions
    
      
            
            
            
      Rated Programs on CrimeSolutions
    
      
            
            
            
      Software & Databases
    
      
            
            
            
      Datasets
    
      
            
            
            
      PatentsRelated Topics
        
                DNA typing
        Forensic sciences
        NIJ Grant-related Documents
        Statistical analysis
        Suspect identification



  
Similar Publications
        
                      A New Tool for Probabilistic Assessment of MPS Data Associated with mtDNA Mixtures
                  Commentary On: Thompson WC. Uncertainty in Probabilistic Genotyping of Low Template DNA: A Case Study Comparing STRmixTM and TrueAlleleTM
                  Notes from the Field: Cluster of Severe Illness from Neptune’s Fix Tianeptine Linked to Synthetic Cannabinoids — New Jersey, June–November 2023
 Top

      National Institute of Justice

        
        
                        About NIJ
                    About NIJ
      
    
                  How NIJ Is Organized
      
    
                  NIJ Director
      
    
                  Research Disclaimer
      
    
                  Funding & Awards
                    Funding & Awards Home
      
    
                  Awards Listing
      
    
                  Current Funding
      
    
                  Guidance for Applicants and Awardees
      
    
                  Resources
                    Events
      
    
                  Podcasts
      
    
                  Publications
      
    
                  Topics
      
    
                  Multimedia
      
    
                  Reuse Policy
      
    
                  Contacts
                    Contact NIJ
      
    
                  Staff Directory
      
    
                  Submit a FOIA Request
      
    
                  File a Civil Rights ComplaintFacebook
          
                      X
          
                      YouTube
  

      810 7th St. NW, Washington, D.C. 20531
      
              Secondary Footer link menu
            Accessibility
              Plain Language
              Privacy Policy
              Legal Policies and Disclaimer
              No FEAR Act
              Freedom of Information Act
              USA.gov
              Justice.gov