GeneticsbioRxivPreprint
Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls
Orna Man, Marcos H. Woehrmann, T. A. Webster…·Jeanette P. Schmidt
The paper improves Axiom array genotyping accuracy for rare variants using a new algorithm and probe filtering, increasing positive predictive value and sensitivity across multiple minor allele frequency ranges.
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