Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis

Use of blood RNA sequencing (RNA‐seq) as a splicing analysis tool for clinical interpretation of variants of uncertain significance (VUSs) found via whole‐genome and exome sequencing can be difficult for genes that have low expression in the blood due to insufficient read count coverage aligned to s...

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Detalles Bibliográficos
Autores principales: Wai, Htoo A., Constable, Matthew, Drewes, Cosima, Davies, Ian C., Svobodova, Eliska, Dempsey, Esther, Saggar, Anand, Homfray, Tessa, Mansour, Sahar, Douzgou, Sofia, Barr, Kate, Mercer, Catherine, Hunt, David, Douglas, Andrew G. L., Baralle, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325405/
https://www.ncbi.nlm.nih.gov/pubmed/35476365
http://dx.doi.org/10.1002/humu.24378

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