To evaluate the effectiveness of long-read whole genome sequencing (WGS) in identifying genetic variants linked to unexplained infertility and recurrent pregnancy loss.
Key Findings:
Pathogenic or likely pathogenic variants were identified in 4.8% of individuals.
Approximately one in 10 affected couples carried a clinically significant genetic variant.
Identified variants were linked to conditions such as premature ovarian insufficiency and spermatogenic failure.
The sequencing workflow achieved an average genome coverage depth of 34.6×.
Interpretation:
Limitations:
Balanced chromosomal rearrangements remain difficult to identify reliably with current long-read datasets.
Cost of long-read sequencing is still a barrier to broader clinical use.
