Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease - Jensen, Tanner D.; Ni, Bohan; Reuter, Chloe M.; Gorzynski, John E.; Fazal, Sarah; Bonner, Devon; Ungar, Rachel A.; Goddard, Pagé C.; Raja, Archana; Ashley, Euan A.; Bernstein, Jonathan A.; Zuchner, Stephan; et al. (Genome Research, 2025)
10.1101/gr.279323.124