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paraphase
HiFi-based caller for highly similar paralogous genes
BSD 3-Clause Clear License
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Update Paraphase to include new genes
#3
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xiao-chen-xc
closed
1 year ago
xiao-chen-xc
commented
1 year ago
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)