Article

SSCM: A method to analyze and predict the pathogenicity of sequence variants

2015-06-26

Abstract excerpt

<h4> Abstract </h4> The advent of cost-effective DNA sequencing has provided clinics with high-resolution information about patient’s genetic variants, which has resulted in the need for efficient interpretation of this genomic data. Traditionally, variant interpretation has been dominated by many manual, time-consuming processes due to the disparate forms of relevant information in clinical databases and litera...

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Literature Corpus work: b7b73552-f0d2-52cb-ae13-f6367a6ed27f
DOI: 10.1101/021527

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