Evidence map›Paper›PMID 21147912›Full record

ArticleGenome research2011

High-throughput sequencing of complete human mtDNA genomes from the Philippines.

Ellen D Gunnarsdóttir, Mingkun Li, Marc Bauchet, Knut Finstermeier, Mark Stoneking

Abstract readEvaluation Study
In one paragraph

Article in Genome research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed
–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

61 citing papers in PubMed.

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  14. Whole Mitochondrial DNA Sequencing Analysis in 47 Han Populations in Southwest China.Medical science monitor : international medical journal of experimental and clinical research · 2019
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1 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

5 authors.

Ellen D GunnarsdóttirMax Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. gunnarsdottir@eva.mpg.de
Mingkun Li
Marc Bauchet
Knut Finstermeier
Mark Stoneking

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Because of the time and cost associated with Sanger sequencing of complete human mtDNA genomes, practically all evolutionary studies have screened samples first to define haplogroups and then either selected a few samples from each haplogroup, or many samples from a particular haplogroup of interest, for complete mtDNA genome sequencing. Such biased sampling precludes many analyses of interest. Here, we used high-throughput sequencing platforms to generate, rapidly and inexpensively, 109 complete mtDNA genome sequences from random samples of individuals from three Filipino groups, including one Negrito group, the Mamanwa. We obtained on average ∼55-fold coverage per sequence, with <1% missing data per sequence. Various analyses attest to the accuracy of the sequences, including comparison to sequences of the first hypervariable segment of the control region generated by Sanger sequencing; patterns of nucleotide substitution and the distribution of polymorphic sites across the genome; and the observed haplogroups. Bayesian skyline plots of population size change through time indicate similar patterns for all three Filipino groups, but sharply contrast with such plots previously constructed from biased sampling of complete mtDNA genomes, as well as with an artificially constructed sample of sequences that mimics the biased sampling. Our results clearly demonstrate that the high-throughput sequencing platforms are the methodology of choice for generating complete mtDNA genome sequences.

Indexed as

Genome, HumanGenome, MitochondrialAsian PeopleDNA, MitochondrialGenetic VariationHaplotypesHigh-Throughput Nucleotide SequencingHumansMolecular Sequence DataPhilippinesPhylogenySequence Analysis, DNADNA, Mitochondrial

Identifiers

PMID21147912
PMCPMC3012916

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Registered trials

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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.