TruPath Multi-Region Joint Detection

Generated on 2026-07-30

MRJD

DRAGEN Multi-region Joint Detection (MRJD) performance for the TruPath 14-cell-line cohort is summarized below. The MRJD results are benchmarked against orthogonal long-read-derived results generated using PacBio HiFi followed by Paraphase.

Total Concordance for Unplaced (mean across the TruPath 14-cell-line cohort)

Paralogous gene or region	Disease relevance	HMW DNA mean concordance	Standard DNA mean concordance
PMS2	Lynch syndrome	0.988	0.987
SMN1-SMN2	Spinal muscular atrophy	0.933	0.927
NCF1	Chronic granulomatous disease	0.969	0.970
CYP21A2 (RCCX region)	Congenital adrenal hyperplasia	0.999	1.000
TNXB (RCCX region)	Ehlers-Danlos syndrome	0.999	1.000
STRC	Recessive nonsyndromic hearing loss	0.980	0.979
CYP2D6	Pharmacogenetics	0.977	0.978
CYP11B1-CYP11B2	Glucocorticoid-remediable aldosteronism	0.998	0.998
GBA-GBAP1	Gaucher disease	0.985	0.984
CFHR1-CFHR2-CFHR3-CFHR4	Atypical hemolytic uremic syndrome	N/A	N/A
SP18	Type I interferonopathy	N/A	N/A

Values are derived from region-level unplaced total concordance metrics aggregated across the TruPath 14-cell-line cohort.