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An Integrative Approach to Precision Pre-implantation Genetic Diagnosis by Investigating Single-cell Sequencing, Polygenic Risk Assessment, Artificial Intelligence-guided Embryo Selection and Genome Editing in Embryos with COL4A1 c.1537G>A Mutation.

作者信息

Siham Muhammed Ali

机构信息

Department of Genomics, Sandor Speciality Diagnostics, Hyderabad, Telangana, India.

出版信息

J Hum Reprod Sci. 2024 Oct-Dec;17(4):292-293. doi: 10.4103/jhrs.jhrs_145_24. Epub 2024 Dec 23.

DOI:10.4103/jhrs.jhrs_145_24
PMID:39831092
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11741120/
Abstract
摘要

相似文献

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本文引用的文献

1
AI models and the future of genomic research and medicine: True sons of knowledge?: Artificial intelligence needs to be integrated with causal conceptions in biomedicine to harness its societal benefits for the field.人工智能模型与基因组学研究和医学的未来：知识的真正产物？：人工智能需要与生物医学中的因果概念相结合，以利用其为该领域带来的社会效益。
Bioessays. 2021 Oct;43(10):e2100025. doi: 10.1002/bies.202100025. Epub 2021 Aug 11.
2
The personal and clinical utility of polygenic risk scores.多基因风险评分的个体和临床效用。
Nat Rev Genet. 2018 Sep;19(9):581-590. doi: 10.1038/s41576-018-0018-x.
3
Embryo genome profiling by single-cell sequencing for successful preimplantation genetic diagnosis in a family harboring COL4A1 c.1537G>A; p.G513S mutation.通过单细胞测序进行胚胎基因组分析以在携带COL4A1基因c.1537G>A；p.G513S突变的家族中成功进行植入前基因诊断
J Hum Reprod Sci. 2016 Jul-Sep;9(3):200-206. doi: 10.4103/0974-1208.192072.
4
Applications of CRISPR technologies in research and beyond.CRISPR技术在研究及其他领域的应用。
Nat Biotechnol. 2016;34(9):933-941. doi: 10.1038/nbt.3659. Epub 2016 Sep 8.