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KMID : 1100820230130040282
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Laboratory Medicine Online
2023 Volume.13 No. 4 p.282 ~ p.289
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Detection of Mosaic Sequence Variants Associated with Human Genetic Diseases
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Kim Man-Jin
Lee Jee-Soo
Seong Moon-Woo
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Abstract
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Mosaicism refers to cells with different genetic makeups within a single zygote. Although relatively common, the frequency of mosaicism is often underestimated, particularly in low-grade cases, due to limitations in detection methods. This review focuses on mosaicism and various detection techniques, emphasizing the types of specimens and tissues involved. While next-generation sequencing is a highly effective detection method, other techniques are expected to play a significant role in the identification or confirmation of mosaicism.
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KEYWORD
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Mosaicism, Germline, Somatic, Next-generation sequencing
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