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@xiao-chen-xc xiao-chen-xc released this 13 Mar 19:39
· 16 commits to main since this release
v2.0.0
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Learn about vigilant mode.

This release extends Paraphase to resolve highly homologous genes listed below

  • SMN1/SMN2 (spinal muscular atrophy)
  • RCCX module
    • CYP21A2 (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
    • TNXB (Ehlers-Danlos syndrome)
    • C4A/C4B (relevant in autoimmune diseases)
  • PMS2 (Lynch Syndrome)
  • STRC (hereditary hearing loss and deafness)
  • IKBKG (Incontinentia Pigmenti)
  • NCF1 (chronic granulomatous disease; Williams syndrome)
  • NEB (Nemaline myopathy)
  • F8 (intron 22 inversion, Hemophilia A)
  • CFC1 (heterotaxy syndrome)
Assets 2
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