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HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

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Kloss-Brandstätter, Anita, Pacher, Dominic, Schönherr, Sebastian, Weissensteiner, Hansi, Binna, Robert, Specht, Günther, Kronenberg, Florian·2011·Human Mutation
DOI 10.1002/humu.21382
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Abstract

An ongoing source of controversy in mitochondrial DNA (mtDNA) research is based on the detection of numerous errors in mtDNA profiles that led to erroneous conclusions and false disease associations. Most of these controversies could be avoided if the samples' haplogroup status would be taken into consideration. Knowing the mtDNA haplogroup affiliation is a critical prerequisite for studying mechanisms of human evolution and discovering genes involved in complex diseases, and validating phylogenetic consistency using haplogroup classification is an important step in quality control. However, despite the availability of Phylotree, a regularly updated classification tree of global mtDNA variation, the process of haplogroup classification is still time-consuming and error-prone, as researchers have to manually compare the polymorphisms found in a population sample to those summarized in Phylotree, polymorphism by polymorphism, sample by sample. We present HaploGrep, a fast, reliable and straight-forward algorithm implemented in a Web application to determine the haplogroup affiliation of thousands of mtDNA profiles genotyped for the entire mtDNA or any part of it. HaploGrep uses the latest version of Phylotree and offers an all-in-one solution for quality assessment of mtDNA profiles in clinical genetics, population genetics and forensics. HaploGrep can be accessed freely at http://haplogrep.uibk.ac.at.

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Metadata

Authors
Kloss-Brandstätter, A., Pacher, D., Schönherr, S., Weissensteiner, H., Binna, R., Specht, G., & Kronenberg, F.
Venue
Human Mutation
Publisher
Hindawi Limited
Published
2010-11-16
Volume
32
Issue
1
Pages
25-32
ISSN
1059-7794 (ISSN-L)
DOI
10.1002/humu.21382
OpenAlex
W2037764582
Cited by
504
References
3
FWCI
10.23
Type
journal article
Language
en
Open access
bronze
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 1750 d)

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CoChat. (2026). Citation check: HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. https://app.cochat.ai/papers/10.1002/humu.21382
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Kloss-Brandstätter, A., Pacher, D., Schönherr, S., Weissensteiner, H., Binna, R., Specht, G., & Kronenberg, F. (2011). HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. Human Mutation. https://doi.org/10.1002/humu.21382

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