Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

HIGHLIGHTS

• who: Haloom Rafehi from the (UNIVERSITY) have published the Article: Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing, in the Journal: (JOURNAL) of 28/Oct/2021
• what: The authors show that applying a standard RE screening pipeline to Family A resulted in an unexpected diagnosis of myotonic dystrophy type 2 (DM2), caused by a CCTG repeat expansion in CNBP , in a sub-branch of the family. The authors show that the 124 implementation of an STR analysis pipeline to screen all WGS datasets has considerable diagnostic utility, both in the clinical . . .
  

   

  

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