Evaluating single-subject study methods for personal transcriptomic interpretations to advance precision medicine.

ABSTRACT:

Background

Gene expression profiling has benefited medicine by providing clinically relevant insights at the molecular candidate and systems levels. However, to adopt a more 'precision' approach that integrates individual variability including 'omics data into risk assessments, diagnoses, and therapeutic decision making, whole transcriptome expression needs to be interpreted meaningfully for single subjects. We propose an "all-against-one" framework that uses biological replicates in isogenic conditions for testing differentially expressed genes (DEGs) in a single subject (ss) in the absence of an appropriate external reference standard or replicates. To evaluate our proposed "all-against-one" framework, we construct reference standards (RSs) with five conventional replicate-anchor

SUBMITTER: Rachid Zaim S 

PROVIDER: S-EPMC6624180 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature