Web of Science: 8 cites, Scopus: 9 cites, Google Scholar: cites,
From Wet‐Lab to Variations : Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
Laurie, Steve (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica)
Fernandez‐Callejo, Marcos (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica)
Marco‐Sola, Santiago (Universitat Pompeu Fabra)
Trotta, Jean‐Remi (Universitat Pompeu Fabra)
Camps, Jordi (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica)
Chacón, Alejandro (Universitat Autònoma de Barcelona)
Espinosa, Antonio (Universitat Autònoma de Barcelona)
Gut, Marta (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica)
Gut, Ivo (Universitat Pompeu Fabra)
Heath, Simon (Universitat Pompeu Fabra)
Beltran, Sergi (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica)

Data: 2016
Resum: As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next‐generation sequencing as standard practice in research and diagnostics. However, computing cost–performance ratio is not advancing at an equivalent rate. Therefore, it is essential to evaluate the robustness of the variant detection process taking into account the computing resources required. We have benchmarked six combinations of state‐of‐the‐art read aligners (BWA‐MEM and GEM3) and variant callers (FreeBayes, GATK HaplotypeCaller, SAMtools) on whole genome and whole exome sequencing data from the NA12878 human sample. Results have been compared between them and against the NIST Genome in a Bottle (GIAB) variants reference dataset. We report differences in speed of up to 20 times in some steps of the process and have observed that SNV, and to a lesser extent InDel, detection is highly consistent in 70% of the genome. SNV, and especially InDel, detection is less reliable in 20% of the genome, and almost unfeasible in the remaining 10%. These findings will aid in choosing the appropriate tools bearing in mind objectives, workload, and computing infrastructure available.
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès.
Document: article ; publishedVersion
Matèria: Whole genome sequencing ; Whole exome sequencing ; NGS ; NA12878 ; Alignment ; Variant calling ; Bioinformatics ; Computing speed ; Benchmark
Publicat a: Human Mutation, Vol. 37, Issue 12 (December 2016) , p. 1263-1271, ISSN 1098-1004

PMID: 27604516
DOI: 10.1002/humu.23114


9 p, 1.2 MB

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