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geck: trio-based comparative benchmarking of variant calls

MOTIVATION: Classical methods of comparing the accuracies of variant calling pipelines are based on truth sets of variants whose genotypes are previously determined with high confidence. An alternative way of performing benchmarking is based on Mendelian constraints between related individuals. Stat...

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Detalles Bibliográficos
Publicado en:Bioinformatics
Main Authors: Kómár, Péter, Kural, Deniz
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6184596/
https://ncbi.nlm.nih.gov/pubmed/29850774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty415
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