Human Islet Research Network (HIRN): Alternative Splicing Events

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Description

Inclusion levels of alternative splicing (AS) events of five different varieties (i.e. skipped exon (SE), retained intron (RI), alternative 5’ splice site (A5SS), alternative 3’ splice site (A3SS), and mutually exclusive exons (MXE)) were measured in human blood samples from two separate cohorts of patients.

Cohort 1 (Training Cohort):

  • 12 healthy controls; 12 new onset type 1 diabetic (T1D) cases
  • cases and controls matched on biological sex, age, and body mass index (BMI)
  • 180 million reads

Cohort 2 (Testing Cohort):

  • 12 healthy controls; 12 new onset type 1 diabetic (T1D) cases
  • cases and controls matched on biological sex and age. BMI not recorded.
  • 150 million reads
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