Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease

March 5, 2019 Leave a comment 1,634 Views

Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals...

Sequencing Reveals Defective RNA Processing Linked to Cardiac Problems Seen in Myotonic Dystrophy

May 12, 2016 Leave a comment 2,864 Views

from Muscular Dystrophy News by Ines Martins – Researchers from the CNRS have discovered the molecular mechanisms responsible for the heart dysfunctions that mark myotonic dystrophy, and reported they appear to be linked to a defective processing of the cardiac sodium channel (SCN5A) ...

RNA-Seq Blog Transcriptome Research & Industry News

Tag Archives: Muscular Dystrophy

Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease

Sequencing Reveals Defective RNA Processing Linked to Cardiac Problems Seen in Myotonic Dystrophy

Introducing BGI’s Dr. Tom System – An Advanced and Intuitive RNA Data Visualization and Analysis System for Easy and Efficient Research and Discovery

Single-cell RNA sequencing provides a breakthrough for tomorrow’s dentistry

Upcoming Webinar – Explore chronic liver disease gene expression data

Sources of variation in cell-type RNA-Seq profiles

Grant will fund single-cell RNA sequencing study of link between senescence and Parkinson’s disease

A practical application of generative adversarial networks for RNA-seq analysis to predict the molecular progress of Alzheimer’s disease

Single-cell analysis reveals fibroblast clusters linked to immunotherapy resistance in cancer