Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing

Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing

Abstract Introduction Distinguishing paracentric inversions (PAIs) from chromosomal insertions has traditionally relied on fluorescent in situ hybridization (FISH) techniques, but recent advancements in high‐throughput sequencing have enabled the use of genome sequencing for such differentiation. In...

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Bibliographic Details
Main Authors: Josephine Wincent, Hafdís T. Helgadóttir, Fotios Sergouniotis, Angelo Salazar Mantero, Claudia M. B. Carvalho, Helena Malmgren, Anna Lindstrand, Erik Iwarsson
Format: Article
Language:English
Published: Wiley 2024-08-01
Series:Acta Obstetricia et Gynecologica Scandinavica
Subjects:
genetic diagnostics
genome sequencing
inv(2)
paracentric inversion
preimplantation genetic testing
Online Access:https://doi.org/10.1111/aogs.14898
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https://doi.org/10.1111/aogs.14898

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