SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Abstract Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed under certain conditions. These transcripts are often lacking from reference transcript sets, such as Ensembl/GENCODE and RefSeq, an...

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主要な著者:	Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2023-06-01
シリーズ:	BMC Genomics
主題:	Variant effect prediction Rare diseases Medical diagnostics Computational pipeline Immune response Primary immunodeficiencies
オンライン･アクセス:	https://doi.org/10.1186/s12864-023-09391-5
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