TruPath Small Variants

Generated on 2026-08-03

TruPath small variants

This page reports TruPath small-variant accuracy for High Molecular Weight (HMW) and Small Molecular Weight (SMW). The DRAGEN Germline Small Variant Caller takes mapped and aligned DNA reads as input and calls SNPs and indels through a combination of column-wise detection and local de novo assembly of haplotypes. For more information, refer to the DRAGEN user guide.

DRAGEN: DRAGEN 4.5.4 | Truthset: GIAB/NIST high-confidence, GIAB/NIST v4.2.1 | Reference: GRCh38

HMW (High Molecular Weight)

Sample	SNP FN	SNP FP	SNP FP+FN	Indel FN	Indel FP	Indel FP+FN
HG001	305	1727	2032	587	557	1144
HG002	1145	1305	2450	588	439	1027
HG003	4588	3805	8393	1798	1379	3177
HG004	1390	1494	2884	774	636	1410
HG005	1144	1249	2393	272	277	549
HG006	1467	2094	3561	390	361	751
HG007	1671	1518	3189	430	303	733

SMW (Standard Molecular Weight)

Sample	SNP FN	SNP FP	SNP FP+FN	Indel FN	Indel FP	Indel FP+FN
HG001	350	1520	1870	708	514	1222
HG002	1368	1233	2601	730	555	1285
HG003	2987	3087	6074	1362	1010	2372
HG004	1641	1318	2959	726	567	1293
HG005	1557	1106	2663	371	321	692
HG006	1707	1875	3582	403	337	740
HG007	2086	1360	3446	492	328	820

HMW (High Molecular Weight) vs SMW (Standard Molecular Weight) side-by-side FP+FN plot

TruPath HMW vs SMW side-by-side FP+FN