[Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system].

Chromosomal karyotyping analysis has been considered as the gold standard for cytogenetic diagnosis and an effective measure for preventing birth defects. However, conventional karyotyping analysis relies heavily on manual recognition, which is time-consuming and labor-intensive. The application of an efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system in clinical practice can significantly reduce the analysis time and greatly improve the efficiency, increase the detection rate for low-percentage mosaicisms, and promote homogenization between laboratories. This can effectively enhance the capacity and level of cytogenetic diagnosis. With the continuous application of such system in the field of karyotyping analysis, a substantial amount of clinical application data and experience has been accumulated. This consensus has been formulated after multiple rounds of discussion by experts from the clinical application collaboration group of the efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system. It aims to provide a reference for peers to better utilize intelligent auxiliary diagnosis systems during chromosomal karyotyping analysis and promote the standardized development of karyotyping analysis technology.

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Publication Details

Journal
PubMed
Published
2024-09-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20240706-00375
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

[Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system].

Hao Wang, Juan Wen, Yi Lai, Lingqian Wu et al.
PubMed
Genomic variations and chromosomal abnormalities
article

[Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system].

Hao Wang, Juan Wen, Yi Lai, Lingqian Wu, Karl J. Friston
article en

Abstract

Chromosomal karyotyping analysis has been considered as the gold standard for cytogenetic diagnosis and an effective measure for preventing birth defects. However, conventional karyotyping analysis relies heavily on manual recognition, which is time-consuming and labor-intensive. The application of an efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system in clinical practice can significantly reduce the analysis time and greatly improve the efficiency, increase the detection rate for low-percentage mosaicisms, and promote homogenization between laboratories. This can effectively enhance the capacity and level of cytogenetic diagnosis. With the continuous application of such system in the field of karyotyping analysis, a substantial amount of clinical application data and experience has been accumulated. This consensus has been formulated after multiple rounds of discussion by experts from the clinical application collaboration group of the efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system. It aims to provide a reference for peers to better utilize intelligent auxiliary diagnosis systems during chromosomal karyotyping analysis and promote the standardized development of karyotyping analysis technology.

PubMedVol. 41(9)
Sir Run Run Shaw Hospital (CN)
Genomic variations and chromosomal abnormalities
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[Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system]. — Hao Wang, Juan Wen, et al. · PubMed (2024) | TGRS Research Map | TGRS