Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with x-linked intellectual disability

HIGHLIGHTS

• who: Hemant Bengani and collaborators from the MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom have published the Article: Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability, in the Journal: PLOS ONE of April/14,/2021
• what: To further increase the likelihood of identifying clinically-interpretable variants the authors focused on the 31/628 altered highly conserved bases in CRE that were predicted to control known XLID genes. The authors also chose to limit the investigations to variants in . . .
  

   

  

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