Evidence map›Paper›PMID 26787189›Full record

ArticleBMC bioinformatics2016

4Pipe4--A 454 data analysis pipeline for SNP detection in datasets with no reference sequence or strain information.

Francisco Pina-Martins, Bruno M Vieira, Sofia G Seabra, Dora Batista, Octávio S Paulo

Abstract read
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Article in BMC bioinformatics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Francisco Pina-MartinsDepartamento de Biologia Animal, Faculdade de Ciências, Computational Biology and Population Genomics Group, cE3c - Centre for Ecology, Evolution and Environmental Changes, Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal. f.pinamartins@gmail.com.
Bruno M VieiraDepartamento de Biologia Animal, Faculdade de Ciências, Computational Biology and Population Genomics Group, cE3c - Centre for Ecology, Evolution and Environmental Changes, Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal.
Sofia G SeabraDepartamento de Biologia Animal, Faculdade de Ciências, Computational Biology and Population Genomics Group, cE3c - Centre for Ecology, Evolution and Environmental Changes, Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal.
Dora BatistaDepartamento de Biologia Animal, Faculdade de Ciências, Computational Biology and Population Genomics Group, cE3c - Centre for Ecology, Evolution and Environmental Changes, Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal.
Octávio S PauloDepartamento de Biologia Animal, Faculdade de Ciências, Computational Biology and Population Genomics Group, cE3c - Centre for Ecology, Evolution and Environmental Changes, Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNext-generation sequencing datasets are becoming more frequent, and their use in population studies is becoming widespread. For non-model species, without a reference genome, it is possible from a panel of individuals to identify a set of SNPs that can be used for further population genotyping. However the lack of a reference genome to which the sequenced data could be compared makes the finding of SNPs more troublesome. Additionally when the data sources (strains) are not identified (e.g. in datasets of pooled individuals), the problem of finding reliable variation in these datasets can become much more difficult due to the lack of specialized software for this specific task.

resultsHere we describe 4Pipe4, a 454 data analysis pipeline particularly focused on SNP detection when no reference or strain information is available. It uses a command line interface to automatically call other programs, parse their outputs and summarize the results. The variation detection routine is built-in in the program itself. Despite being optimized for SNP mining in 454 EST data, it is flexible enough to automate the analysis of genomic data or even data from other NGS technologies. 4Pipe4 will output several HTML formatted reports with metrics on many of the most common assembly values, as well as on all the variation found. There is also a module available for finding putative SSRs in the analysed datasets.

conclusionsThis program can be especially useful for researchers that have 454 datasets of a panel of pooled individuals and want to discover and characterize SNPs for subsequent individual genotyping with customized genotyping arrays. In comparison with other SNP detection approaches, 4Pipe4 showed the best validation ratio, retrieving a smaller number of SNPs but with a considerably lower false positive rate than other methods. 4Pipe4's source code is available at https://github.com/StuntsPT/4Pipe4.

Indexed as

Databases, GeneticHigh-Throughput Nucleotide SequencingPolymorphism, Single NucleotideSoftwareComputer SimulationGenome, HumanGenotyping TechniquesHumansModels, MolecularReproducibility of Results

Identifiers

PMID26787189
PMCPMC4719533

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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.