Clinical implementation of RNA sequencing for Mendelian disease diagnostics

RT @gagneurlab: Variant Calling from RNA-seq substantially expands upon WES variant calling covering intronic and UTR regions as demonstrat…

RT @gagneurlab: Variant Calling from RNA-seq substantially expands upon WES variant calling covering intronic and UTR regions as demonstrat…

Variant Calling from RNA-seq substantially expands upon WES variant calling covering intronic and UTR regions as demonstrated in our recent Genome Medicine paper https://t.co/2qHbTOeifR #RareDiseases 2/3 https://t.co/KQnwckLpnz

RT @PhiTech_Bioinfo: #RNASeq data is unique since we can extract multi-layer information from a single sample. For rare Mendelian diseases,…