Tagged

#rna-seq

2 articles tagged with #rna-seq.

What published comparisons show about confirming splice variants in patient RNA

SpliceAI and Pangolin lead the DNA-based predictors on variants tested in patient RNA, and SpliceAI beats motif scoring on the same data, but no predictor replaces the RNA test. RNA-seq outlier callers recover between none and most known events and flag outliers in nearly every negative sample.

#rare-disease #rna-seq #splicingOct 12, 2026
20 min read

What the benchmarks say about choosing an RNA fusion caller

Short-read callers recover most validated driver fusions in haematologic cell lines but differ by orders of magnitude in review burden. Long-read callers score far lower in an independent benchmark. No comparison covers solid tumours or FFPE tissue.

#molecular-pathology #rna-seq #gene-fusionsOct 12, 2026
20 min read