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- W3208260018 abstract "Abstract Chronic Myelogenous Leukemia (CML) has a special phenomenon of chromosome translocation, which is called Philadelphia chromosome translocation. However, the detailed connection of this structure is troublesome and expensive to be identified. Low-coverage whole genome sequencing (LCWGS) could not only detect the chromosomal translocation which does not be known in advance, but also provide the breakpoint candidate small region (with an accuracy of ±200 bases). Importantly, the sequencing cost of LCWGS is about US$300. Then, with the Sanger DNA sequencing, the precise breakpoint can be determined at a single base level. In our project, with LCWGS, BCR and ABL1 are successfully identified and were disrupted at chr22:23,632,356 and chr9:133,590,450, respectively. Due to the reconnection after chromosome breakage, classical fusion gene (BCR-ABL1) was found in bone marrow and peripheral blood. The precise breakpoints were helpful to study the pathogenic mechanism of CML and could better guide the classification of CML subtypes. This LCWGS method is universal and can be used to detect all diseases related to chromosome variation, such as solid tumors, liquid tumors and birth defects." @default.
- W3208260018 created "2021-11-08" @default.
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- W3208260018 date "2021-10-22" @default.
- W3208260018 modified "2023-09-26" @default.
- W3208260018 title "Highly precise breakpoint detection of chromosome balanced translocation in a Chronic Myelogenous Leukemia patient" @default.
- W3208260018 doi "https://doi.org/10.21203/rs.3.rs-963219/v1" @default.
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