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. Author manuscript; available in PMC: 2019 May 16.
Published in final edited form as: Genet Med. 2018 Feb 1;20(10):1196–1205. doi: 10.1038/gim.2017.241

Table 1. SNV, indel, and CNA overlap of clinical report between FF and FFPE.

Sample Tier Total Unique FF Unique FFPE Overlap % Overlap
4 1   6 (2/4) 1 (0/1) 0 (0/0)   5 (2/3)   83 (100/75)
4 2   8 (4/4) 1 (1/0) 0 (0/0)   7 (3/4)   88 (75/100)
4 3   2 (2/0) 0 (0/0) 1 (1/0)   1 (1/0)   50 (50/NA)
32 1   4 (2/2) 0 (0/0) 0 (0/0)   4 (2/2) 100 (100/100)
32 2 17 (17/0) 1 (1/0) 3 (3/0) 13 (13/0)   76 (76/NA)
32 3   7 (5/2) 1 (0/1) 3 (3/0)   3 (2/1)   43 (40/50)
65 1 11 (1/10) 0 (0/0) 0 (0/0) 11 (1/10) 100 (100/100)
65 2 12 (10/2) 0 (0/0) 1 (1/0) 11 (9/2)   92 (90/100)
65 3 11 (7/4) 1 (0/1) 1 (1/0)   9 (6/3)   82 (86/75)
300 1   8 (2/6) 0 (0/0) 0 (0/0)   8 (2/6) 100 (100/100)
300 2 16 (14/2) 0 (0/0) 2 (2/0) 14 (12/2)   88 (86/100)
300 3   6 (6/0) 0 (0/0) 1 (1/0)   5 (5/0)   83 (83/NA)
365 1 11 (2/9) 0 (0/0) 0 (0/0) 11 (2/9) 100 (100/100)
365 2 11 (8/3) 1 (1/0) 0 (0/0) 10 (7/3)   91 (88/100)
365 3 10 (4/6) 0 (0/0) 0 (0/0) 10 (4/6) 100 (100/100)
Total 1 40 (9/31) 1 (0/1) 0 (0/0) 39 (9/30)   98 (100/97)
Total 2 64 (53/11) 3 (3/0) 6 (6/0) 55 (44/11)   86 (83/100)
Total 3 36 (24/12) 2 (0/2) 6 (6/0) 28 (18/10)   78 (75/83)

CNA, copy-number alteration; FF, fresh frozen; FFPE, formalin-fixed, paraffin-embedded; NA, not applicable (no variant detected in this category); SNV, single-nucleotide variants. Total (somatic SNV+indel/somatic CNA).