Evidence map›Paper›PMID 22535184›Full record

ArticleEuropean journal of human genetics : EJHG2012

Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs.

Andrew J Pakstis, Rixun Fang, Manohar R Furtado, Judith R Kidd, Kenneth K Kidd

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

  1. The Portable Microhaplotype Object and Tools.bioRxiv : the preprint server for biology · 2025
    Article
  2. Estimation of genetic admixture proportions via haplotypes.Computational and structural biotechnology journal · 2024
    Article
  3. Article
  4. Review
  5. Article
  6. Research progress on application of microhaplotype in forensic genetics.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021
    Review
  7. Review
  8. Article
  9. Identifying novel microhaplotypes for ancestry inference.International journal of legal medicine · 2019
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Andrew J PakstisDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
Rixun Fang
Manohar R Furtado
Judith R Kidd
Kenneth K Kidd

Funding

Theoretical Studies of Linkage DisequilibriumP01GM057672 · NIGMS · YALE UNIVERSITY · PI KIDD, JUDITH R · 1998 to 2008
$11.0M
NIGMS NIH HHS GM057672NIGMS NIH HHS P01 GM057672
6 · The paper itself

Abstract

We propose that haplotyped loci with high heterozygosity can be useful in human identification, especially within families, if recombination is very low among the sites. Three or more SNPs extending over small molecular intervals (<10 KB) can be identified in the human genome to define miniature haplotypes with moderate levels of linkage disequilibrium. Properly selected, these mini-haplotypes (or minihaps) consist of multiple haplotype lineages (alleles) that have evolved from the ancestral human haplotype but show no evidence of recurring recombination, allowing each distinct haplotype to be equated with an allele, all copies of which are essentially identical by descent. Historic recombinants, representing rare events that have drifted to common frequencies over many generations, can be identified in some cases, they do not equate to frequently recurring recombination. We have identified examples in our data collected on various projects and present eight such mini-haplotypes comprised of informative SNPs. We also discuss the ideal characteristics and advantages of minihaps for human familial identification and ancestry inference, and compare them to other types of forensic markers in use and/or that have been proposed. We expect that it is possible to carry out a systematic search and identify a useful panel of mini-haplotypes, with even better properties than the examples presented here.

Indexed as

HaplotypesPolymorphism, Single NucleotideAllelesGenome, HumanHeterozygoteHumansLinkage DisequilibriumPopulation GroupsRecombination, Genetic

Identifiers

PMID22535184
PMCPMC3476707

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.