Article

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

2022-03-27

Abstract excerpt

Large-scale next-generation sequencing datasets have been transformative for informing clinical variant interpretation and as reference panels for statistical and population genetic efforts. While such resources are often treated as ground truth, we find that in widely used reference datasets such as the Genome Aggregation Database (gnomAD), some variants pass gold standard filters yet are systematically different...

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Literature Corpus work: e30acc79-c6f0-5a25-adb3-6bd3083706d3
DOI: 10.1101/2022.03.24.485707

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