Article

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

2022-10-24

Abstract excerpt

Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular in transcripts only expressed under certain conditions. These transcripts are often lacking from reference transcript sets, such as Ensembl/GENCODE and RefSeq, and could be relevant for establishing genetic diagnoses. We present SUsPECT (Solving Unsolved Patient Exomes/gEnomes using Custom Transcrip...

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Literature Corpus work: 7985136e-05c5-56e8-b1ce-843ee3d76fc1
DOI: 10.1101/2022.10.23.513417

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