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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Bioinformatics
Main Authors: Kómár, Péter, Kural, Deniz
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2018
Teme:
Online dostop: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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