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Ep049: Discordant Fluorescence in Situ Hybridization and RNASeq Results in the Identification of Fusion Partners in Recurring Translocations in Hematological Malignancies

Genetics in medicine(2022)

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摘要
Reciprocal chromosomal translocations are implicated in neoplastic transformation in tumors. These can be identified by chromosome analysis, by fluorescence in situ hybridization (FISH) if cryptic, or by RNASeq/next generation sequencing. FISH probes are highly specific and sensitive, and have the advantage of faster turn-around-time, are less expensive, and can be used on a variety of specimen types. Therefore, several of these probes are commercially available, and are incorporated to screen diagnostic specimens.
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