Article

Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndrome

2021-08-26

Abstract excerpt

<h4>Purpose</h4> Shwachman-Diamond syndrome (SDS) is predominately caused by biallelic mutations in the SBDS gene and is characterized by exocrine pancreatic insufficiency, skeletal abnormalities and pancytopenia. Gene conversion between SBDS and its pseudogene SBDSP1 is the major cause. We established an efficient approach, HapICE, to infer the haplotype of SBDS based on short-read next-generation sequencing (NGS...

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Literature Corpus work: 1ef0a032-3e66-5af9-8013-c8c51ce65378
DOI: 10.1101/2021.08.22.21262444

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