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Using HiFi Long-Read Whole Genome Sequencing To Enhance Diagnosis In Patients With Subfertility And/Or Recurrent Pregnancy Loss

2026-05-08

Abstract excerpt

Subfertility and recurrent pregnancy loss (RPL) affect a significant proportion of couples worldwide. Genetic causes can be seen in up to 30% of these individuals but require multiple genetic tests, which often impede a comprehensive work up. Newer genomic technologies, such as PacBio HiFi long read sequencing (LRS) can detect most subclasses of variations (such as structural rearrangement, monogenic disorders) th...

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Literature Corpus work: bb08f290-014a-5bce-90db-9dbe1ec397e7
DOI: 10.64898/2026.05.01.26352136

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