Evidence map›Paper›PMID 26224735›Full record

ArticleGenetics2015

Genotype-Frequency Estimation from High-Throughput Sequencing Data.

Takahiro Maruki, Michael Lynch

Abstract read
In one paragraph

Article in Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

17 citing papers in PubMed.

  1. Article
  2. The genome-wide signature of short-term temporal selection.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Evolutionary Genomics of a Subdivided Species.Molecular biology and evolution · 2022
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Population Genomics ofGenetics · 2017
    Article
  15. Article
  16. Article
  17. Article
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

2 authors.

Takahiro MarukiDepartment of Biology, Indiana University, Bloomington, Indiana 47405 tmaruki@indiana.edu.
Michael LynchDepartment of Biology, Indiana University, Bloomington, Indiana 47405.

Funding

The Rate and Molecular Spectrum of Spontaneous MutationsR01GM036827 · NIGMS · UNIVERSITY OF OREGON · PI LYNCH, MICHAEL R · 1988 to 2016
$5.7M
Population Genomics of Daphnia pulexR01GM101672 · NIGMS · TRUSTEES OF INDIANA UNIVERSITY · PI LYNCH, MICHAEL R · 2013 to 2016
$2.3M
NIGMS NIH HHS 1R01GM101672-01A1NIGMS NIH HHS R01 GM036827NIGMS NIH HHS R01 GM101672
6 · The paper itself

Abstract

Rapidly improving high-throughput sequencing technologies provide unprecedented opportunities for carrying out population-genomic studies with various organisms. To take full advantage of these methods, it is essential to correctly estimate allele and genotype frequencies, and here we present a maximum-likelihood method that accomplishes these tasks. The proposed method fully accounts for uncertainties resulting from sequencing errors and biparental chromosome sampling and yields essentially unbiased estimates with minimal sampling variances with moderately high depths of coverage regardless of a mating system and structure of the population. Moreover, we have developed statistical tests for examining the significance of polymorphisms and their genotypic deviations from Hardy-Weinberg equilibrium. We examine the performance of the proposed method by computer simulations and apply it to low-coverage human data generated by high-throughput sequencing. The results show that the proposed method improves our ability to carry out population-genomic analyses in important ways. The software package of the proposed method is freely available from https://github.com/Takahiro-Maruki/Package-GFE.

Indexed as

GenotypeSoftwareData MiningGenetics, PopulationGenomicsHigh-Throughput Nucleotide SequencingHumansLikelihood Functionsgenotype frequencyHardy–Weinberg testinbreeding coefficientpolymorphism detectionpopulation genomics

Identifiers

PMID26224735
PMCPMC4596663

What OpenQuestion holds

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Registered trials

None linked

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.