Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions

Abstract excerpt

BACKGROUND: Preimplantation genetic testing (PGT) has already been applied in patients known to carry chromosomal structural variants to improve the clinical outcome of assisted reproduction. However, conventional molecular techniques are not capable of reliably distinguishing embryos that carry balanced inversion from those with a normal karyotype. We aim to evaluate the use of long-read sequencing in...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Syndromes and Imprinting
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics