Article

Regional missense constraint improves variant deleteriousness prediction

2017-06-12

Abstract excerpt

Given increasing numbers of patients who are undergoing exome or genome sequencing, it is critical to establish tools and methods to interpret the impact of genetic variation. While the ability to predict deleteriousness for any given variant is limited, missense variants remain a particularly challenging class of variation to interpret, since they can have drastically different effects depending on both the preci...

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Literature Corpus work: 3da9816b-0d2a-5870-bf7b-2c2d56d42259
DOI: 10.1101/148353

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