Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index

Keyphrases

• Rare Diseases 100%
• RNA Sequencing (RNA-seq) 100%
• Sequencing Depth 100%
• Aberrant Splicing 100%
• Improved Detection 100%
• Jaccard Index 100%
• Multiple Testing Correction 100%
• Denoising Autoencoder 50%
• Rare Variants 50%
• Disease Diagnosis 50%
• OR Genes 50%
• Improved Algorithm 50%
• Excision 50%
• Optimized Model 50%
• Alternative Donor 50%
• Transcriptome-wide 50%
• Intron Retention 50%
• Relative Reduction 50%
• Retention Signal 50%
• Genotype-Tissue Expression (GTEx) 50%
• Alternative Acceptor 50%
• Methodological Improvements 50%

Biochemistry, Genetics and Molecular Biology

• Intron 100%
• RNA Sequencing 66%
• Intron Retention 33%
• Transcriptome 33%
• Rare Variant 33%