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Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

BACKGROUND: Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution should be exercised in genetic counseling and reproductive intervention becaus...

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Detalles Bibliográficos
Autores principales: Tan, Ya-Qi, Tan, Yue-Qiu, Cheng, De-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201554/
https://www.ncbi.nlm.nih.gov/pubmed/32391085
http://dx.doi.org/10.1186/s13039-020-00487-1