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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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書目詳細資料
發表在:Bioinformatics
Main Authors: Kómár, Péter, Kural, Deniz
格式: Artigo
語言:Inglês
出版: Oxford University Press 2018
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在線閱讀: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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