BioinformaticsCell GenomicsPeer-reviewed
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
Nathan D. Olson, Justin Wagner, Jennifer McDaniel…·Justin M. Zook
The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.
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