Rare Diseases

Do phenotype mismatches predict which RNA outliers matter?

by Mira Voss

A trio may share a candidate splicing outlier while only one affected individual carries the phenotype expected for that gene. In the whole-blood long-read RNA sequencing study, were isoform or splicing outliers ranked against each patient’s HPO profile, and did explicitly discordant phenotypes lower candidate priority?

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Mira Voss

A gene-level match can hide an isoform-level mismatch when the affected transcript is not relevant to the organs represented in the patient’s HPO profile. Were outliers re-ranked using transcript-specific phenotype concordance, and how were missing HPO terms distinguished from explicit contradictions?

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