Article

A variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing

2024-04-19

Abstract excerpt

<h4>Background</h4> Genomic testing such as exome sequencing and genome sequencing is being widely utilized for diagnosing rare Mendelian disorders. Because of a large number of variants identified by these tests, interpreting the final list of variants and identifying the disease-causing variant even after filtering out likely benign variants could be labor-intensive and time-consuming. It becomes even more burde...

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Literature Corpus work: 4b1b0ed5-dbdf-51eb-882f-5b06b769e88c
DOI: 10.1101/2024.04.18.24305632

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