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
Autores principales: Kómár, Péter, Kural, Deniz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6184596/
https://www.ncbi.nlm.nih.gov/pubmed/29850774
http://dx.doi.org/10.1093/bioinformatics/bty415

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6184596/
https://www.ncbi.nlm.nih.gov/pubmed/29850774
http://dx.doi.org/10.1093/bioinformatics/bty415

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