Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

ABSTRACT: Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation of variants across the genome enables the identification of multiple molecular diagnoses (MMDs) in a single individual. In this retrospective study, we describe individuals in whom MMDs were associated with the proband's indication for testing (IFT), secondary findings, or incidental findings. An MMD is considered where at least one of the findings is associated with the primary IFT and all variants are classified as either likely pathogenic or pathogenic. Clinical genome sequencing was performed for all individuals as part of the iHope program at the Illumina Laboratory Services between September 2017 and December 2023. The iHope cohort included 1,846 affected indivi

SUBMITTER: Malhotra A 

PROVIDER: S-EPMC12033986 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature