Identification and validation of subclusters of papillary thyroid carcinoma based on Human Phenotype Ontology.

ABSTRACT:

Background

The increase in the diagnosis of papillary thyroid carcinoma (PTC) has prompted researchers to establish a diagnostic model and identify functional subclusters. The Human Phenotype Ontology (HPO) platform is widely available for differential diagnostics and phenotype-driven investigations based on next-generation sequence-variation data. However, a systematic and comprehensive study to identify and validate PTC subclusters based on HPO is lacking.

Methods

We first used the HPO platform to identify the PTC subclusters. An enrichment analysis was then conducted to examine the key biological processes and pathways associated with the subclusters, and a gene mutation analysis of the subclusters was conducted. For each subcluster, the differentially expressed genes (DE

SUBMITTER: Xuan Z 

PROVIDER: S-EPMC10240432 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature