Article

Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontology

2023-10-10

Abstract excerpt

<title>Abstract</title> <p>Rare genetic diseases often pose significant challenges for diagnosis. Over the past years, RNA sequencing and other omics modalities have emerged as complementary strategies to DNA sequencing to enhance diagnostic success. In the 6th round of the Critical Assessment of Genome Interpretation (CAGI), the SickKids clinical genomes and transcriptomes challenge aimed to evaluate the diagnos...

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Literature Corpus work: 8d1a30e4-5a70-5151-afa7-262c4dc26d3d
DOI: 10.21203/rs.3.rs-3405211/v1

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