Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

ABSTRACT:

Purpose

To evaluate the clinical utility of runs of homozygosity (ROH) in identifying the genetic causes of rare diseases in our patient population.

Methods

All unrelated patients (N = 2787), presenting with neurodevelopmental disorders and/or congenital anomalies, who underwent chromosomal microarray testing in our laboratory between July 2019 and December 2023, and publicly available single-nucleotide polymorphism microarray data from 3488 unrelated individuals in the general population were included in this study. Electronic medical records of all 2787 patients were reviewed to obtain information on follow-up genetic testing to identify the genetic causes.

Results

A total of 947 patients had at least 1 ROH > 5 Mb, and the majority of these (75%) were recurre

SUBMITTER: Sivakumaran TA 

PROVIDER: S-EPMC12514478 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature