Article

Fixing reference errors efficiently improves sequencing results

2022-07-20

Abstract excerpt

The GRCh38 reference is the current standard in human genomics research and clinical applications, but includes errors across 33 protein-coding genes, including 12 with medical relevance. Current studies rely on the correctness of this reference genome and require an accurate and cost-effective way to improve variant calling and expression analysis across these erroneous loci. We identified likely artifacts in GTE...

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Literature Corpus work: ebf265e9-f8c5-5b85-96b9-202818e8d9d5
DOI: 10.1101/2022.07.18.500506

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