Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Vincent SchwenkRafaela Magalhaes Leal Silva Florentine ScharfKatharina KnaustMartin WendlandtTanja HäusserJulia M A PicklVerena Steinke-LangeAndreas LanerMonika MorakElke Holinski-FederDieter A Wolf

Published in: Journal of medical genetics (2023)

Our data show that CAPLRseq is an automatable and adaptable workflow for effective transcriptome-based identification of disease variants in a clinical diagnostic setting.

Keyphrases

single cell
rna seq
electronic health record
copy number
genome wide
gene expression
single molecule
big data
case report
bioinformatics analysis
machine learning
data analysis
artificial intelligence