Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.

ABSTRACT:

Importance

Currently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established.

Objective

To investigate the diagnostic yield of ES and CMA in short stature.

Data sources

A systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023.

Study selection

Eligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in

SUBMITTER: Li Q 

PROVIDER: S-EPMC10495925 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature