ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband

ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband

Abstract Background Despite the gradual application of third-generation long read sequencing (LRS) or reference embryo establishment to preimplantation genetic testing for structural rearrangement (PGT-SR) without familial involvement, there are still limitations to their extensive clinical applicat...

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Bibliographic Details
Main Authors: Jiangyang Xue, Min Xie, Jie Cai, Kai Kang, Mengnan Gu, Mai Li, Haiyue Shi, Xin Zhang, Lingyin Kong, Bo Liang, Liming Zhou, Changshui Chen, Haibo Li
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Reproductive Biology and Endocrinology
Subjects:
Virtual NGS-based long read method (ViLR)
Breakpoint identification
Direct SNP haplotyping
De novo
Preimplantation genetic testing for structural rearrangement (PGT-SR)
Online Access:https://doi.org/10.1186/s12958-025-01366-3
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https://doi.org/10.1186/s12958-025-01366-3

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