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

March 5, 2019 Leave a comment 1,875 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 2,960 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

Elucidating the cellular dynamics of the brain with single-cell RNA sequencing

Building a corn cob—cell by cell, gene by gene

RNA-Seq – a closer look at read mapping

Tailoring the resolution of single-cell RNA sequencing for primary cytotoxic T cells

Upcoming Workshop – Bioinformatics Bootcamp Advanced Topics – Single Cell RNA-Seq

NDRindex – a method for the quality assessment of single-cell RNA-Seq preprocessing data

Study defines small-cell lung cancer subtypes and distinct therapeutic vulnerabilities for each type