Article

Semiautomated approach focused on new genomic information results in time and effort- efficient reannotation of negative exome data

2023-07-14

Abstract excerpt

<h4>Introduction: </h4> Most rare disease patients (75 − 50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing variants and genes, increasing this diagnostic yield. However, time and resource constraints have limited reanalysis of genetic data in clinical laboratories setting. We...

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Literature Corpus work: 324e8d8f-7e87-5d0e-b86b-426a921c5fe7
DOI: 10.21203/rs.3.rs-3146571/v1

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