Evidence map›Paper›PMID 27084951›Full record

ArticleNucleic acids research2016

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing.

Hansi Weissensteiner, Dominic Pacher, Anita Kloss-Brandstätter, Lukas Forer, Günther Specht, Hans-Jürgen Bandelt, Florian Kronenberg, Antonio Salas, Sebastian Schönherr

Abstract read
In one paragraph

Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 556 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
556citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

556 citing papers in PubMed, 1 synthesis or guideline pooled it.

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496 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Hansi WeissensteinerDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck 6020, Austria Department of Database and Information Systems, Institute of Computer Science, University of Innsbruck, Innsbruck 6020, Austria.
Dominic PacherDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck 6020, Austria.
Anita Kloss-BrandstätterDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck 6020, Austria.
Lukas ForerDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck 6020, Austria.
Günther SpechtDepartment of Database and Information Systems, Institute of Computer Science, University of Innsbruck, Innsbruck 6020, Austria.
Hans-Jürgen BandeltDepartment of Mathematics, University of Hamburg, Hamburg 20146, Germany.
Florian KronenbergDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck 6020, Austria.
Antonio SalasUnidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Calle San Francisco s/n, C.P. 15872, Galicia, Spain.
Sebastian SchönherrDivision of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck 6020, Austria sebastian.schoenherr@i-med.ac.at.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters (haplogroups), which is of great relevance for evolutionary, forensic and medical genetics. With the extensive growth of the underlying phylogenetic tree summarizing the published mtDNA sequences, the manual process of haplogroup classification would be too time-consuming. The previously published classification tool HaploGrep provided an automatic way to address this issue. Here, we present the completely updated version HaploGrep 2 offering several advanced features, including a generic rule-based system for immediate quality control (QC). This allows detecting artificial recombinants and missing variants as well as annotating rare and phantom mutations. Furthermore, the handling of high-throughput data in form of VCF files is now directly supported. For data output, several graphical reports are generated in real time, such as a multiple sequence alignment format, a VCF format and extended haplogroup QC reports, all viewable directly within the application. In addition, HaploGrep 2 generates a publication-ready phylogenetic tree of all input samples encoded relative to the revised Cambridge Reference Sequence. Finally, new distance measures and optimizations of the algorithm increase accuracy and speed-up the application. HaploGrep 2 can be accessed freely and without any registration at http://haplogrep.uibk.ac.at.

Indexed as

HaplotypesPhylogenyUser-Computer InterfaceAlgorithmsBiological EvolutionDNA, MitochondrialGenetic VariationHigh-Throughput Nucleotide SequencingHumansInternetMitochondriaQuality ControlSequence AlignmentSequence Analysis, DNADNA, Mitochondrial

Identifiers

PMID27084951
PMCPMC4987869

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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.