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Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum

2021-09-17

Abstract excerpt

Next-generation sequencing (NGS) is a useful molecular diagnostic tool for genetic diseases. However, due to the presence of highly homologous pseudogenes, it is challenging to use short-read NGS for analyzing mutations of the Shwachman-Bodian-Diamond syndrome ( SBDS ) gene. The SBDS mutation spectrum was analyzed in the Chinese population, which revealed that SBDS variants were primarily from sequence exchange be...

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Literature Corpus work: d3a2c5e7-04bd-541c-a882-566460de0552
DOI: 10.1101/2021.09.03.21263106

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Improved detection of <i>SBDS</i> gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum

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