Evidence map›Paper›PMID 24088262›Full record

ArticleBMC bioinformatics2013

Calculation of Tajima's D and other neutrality test statistics from low depth next-generation sequencing data.

Thorfinn Sand Korneliussen, Ida Moltke, Anders Albrechtsen, Rasmus Nielsen

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Article in BMC bioinformatics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers.

0numbers the graph read from it
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131citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

131 citing papers in PubMed.

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

4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Thorfinn Sand KorneliussenCentre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oestervoldgade 5-7, DK-1350, Copenhagen, Denmark. thorfinn@binf.ku.dk.
Ida Moltke
Anders Albrechtsen
Rasmus Nielsen

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundA number of different statistics are used for detecting natural selection using DNA sequencing data, including statistics that are summaries of the frequency spectrum, such as Tajima's D. These statistics are now often being applied in the analysis of Next Generation Sequencing (NGS) data. However, estimates of frequency spectra from NGS data are strongly affected by low sequencing coverage; the inherent technology dependent variation in sequencing depth causes systematic differences in the value of the statistic among genomic regions.

resultsWe have developed an approach that accommodates the uncertainty of the data when calculating site frequency based neutrality test statistics. A salient feature of this approach is that it implicitly solves the problems of varying sequencing depth, missing data and avoids the need to infer variable sites for the analysis and thereby avoids ascertainment problems introduced by a SNP discovery process.

conclusionUsing an empirical Bayes approach for fast computations, we show that this method produces results for low-coverage NGS data comparable to those achieved when the genotypes are known without uncertainty. We also validate the method in an analysis of data from the 1000 genomes project. The method is implemented in a fast framework which enables researchers to perform these neutrality tests on a genome-wide scale.

Indexed as

Base SequenceBayes TheoremBiasFeasibility StudiesGene FrequencyGenetics, PopulationGenetic VariationGenome, HumanGenotypeHigh-Throughput Nucleotide SequencingHumansLikelihood FunctionsPolymorphism, Single NucleotideSelection, GeneticSequence Analysis, DNA

Identifiers

PMID24088262
PMCPMC4015034

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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.