Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

Human-Genetic Ancestry Inference and False Positives in Forensic Familial Searching

View ORCID ProfileAlyssa Lyn Fortier, View ORCID ProfileJaehee Kim, Noah A. Rosenberg
doi: https://doi.org/10.1101/2020.03.06.981134
Alyssa Lyn Fortier
1Department of Biology, Stanford University, Stanford, CA 94305 USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Alyssa Lyn Fortier
  • For correspondence: afortier@stanford.edu
Jaehee Kim
1Department of Biology, Stanford University, Stanford, CA 94305 USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jaehee Kim
Noah A. Rosenberg
1Department of Biology, Stanford University, Stanford, CA 94305 USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Preview PDF
Loading

Abstract

In forensic familial search methods, a query DNA profile is tested against a database to determine if the query profile represents a close relative of a database entrant. One challenge for familial search is that the calculations may require specification of allele frequencies for the unknown population from which the query profile has originated. Allele-frequency misspecification can substantially inflate false-positive rates compared to use of allele frequencies drawn from the same population as the query profile. Here, we use ancestry inference on the query profile to circumvent the high false-positive rates that result from highly misspecified allele frequencies. In particular, we perform ancestry inference on the query profile and make use of allele frequencies based on its inferred genetic ancestry. In a test for sibling matches on profiles that represent unrelated individuals, we demonstrate that false-positive rates for familial search with use of ancestry inference to specify the allele frequencies are similar to those seen when allele frequencies align with the population of origin of a profile. Because ancestry inference is possible to perform on query profiles, the extreme allele-frequency misspecifications that produce the highest false-positive rates can be avoided. We discuss the implications of the results in the context of concerns about the forensic use of familial searching.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Back to top
PreviousNext
Posted March 08, 2020.
Download PDF
Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
Human-Genetic Ancestry Inference and False Positives in Forensic Familial Searching
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
Human-Genetic Ancestry Inference and False Positives in Forensic Familial Searching
Alyssa Lyn Fortier, Jaehee Kim, Noah A. Rosenberg
bioRxiv 2020.03.06.981134; doi: https://doi.org/10.1101/2020.03.06.981134
Reddit logo Twitter logo Facebook logo LinkedIn logo Mendeley logo
Citation Tools
Human-Genetic Ancestry Inference and False Positives in Forensic Familial Searching
Alyssa Lyn Fortier, Jaehee Kim, Noah A. Rosenberg
bioRxiv 2020.03.06.981134; doi: https://doi.org/10.1101/2020.03.06.981134

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Genetics
Subject Areas
All Articles
  • Animal Behavior and Cognition (4222)
  • Biochemistry (9096)
  • Bioengineering (6735)
  • Bioinformatics (23916)
  • Biophysics (12066)
  • Cancer Biology (9484)
  • Cell Biology (13722)
  • Clinical Trials (138)
  • Developmental Biology (7614)
  • Ecology (11645)
  • Epidemiology (2066)
  • Evolutionary Biology (15461)
  • Genetics (10611)
  • Genomics (14281)
  • Immunology (9448)
  • Microbiology (22753)
  • Molecular Biology (9057)
  • Neuroscience (48813)
  • Paleontology (354)
  • Pathology (1478)
  • Pharmacology and Toxicology (2559)
  • Physiology (3818)
  • Plant Biology (8300)
  • Scientific Communication and Education (1467)
  • Synthetic Biology (2285)
  • Systems Biology (6163)
  • Zoology (1296)