Article

Nanopore sequencing of full-length <i>BRCA1</i> mRNA transcripts reveals co-occurrence of known exon skipping events

2017-07-30

Abstract excerpt

Laboratory assays evaluating the effect of DNA sequence variants on BRCA1 mRNA splicing may contribute to classification by providing molecular evidence. However, our knowledge of normal and aberrant BRCA1 splicing events to date has been limited to data derived from assays targeting partial transcript sequences. For the first time, we resolve the exon structure of whole BRCA1 transcripts using MinION nanopore...

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Literature Corpus work: 5e331215-9f05-5ca2-872f-447b8056d3b1
DOI: 10.1101/169755

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