Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling

Abstract Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were inc...

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Bibliographic Details
Main Authors: Kaili Yin, Mengmeng Li, Hanzhe Zhang, Jiazhen Chang, Qingwei Qi, Xiya Zhou, Jiangshan Guo, Yaru Wang, Xuequn Mao, Na Hao, Yulin Jiang
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
Subjects:
Optical genome mapping
Chromosomal aberrations
Conventional methods
Genetic counseling
Online Access:https://doi.org/10.1038/s41598-025-86828-9
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