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Article

geck: trio-based comparative benchmarking of variant calls.

Bioinformatics (Oxford, England) - 15 Oct 2018

Kómár Péter, Kural Deniz

Abstract excerpt

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. Statistical analysis of Mendelian violations can provide truth set-independent benchmarking information, and enable...

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PMID: 29850774
DOI: 10.1093/bioinformatics/bty415
PMCID: PMC6184596

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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