Exact(9)
For example, the CGCs varied substantially in their judgment on the contribution of the GLA variant to the disease in patient 9. Apart from CGC 1, four other centers (CGCs 4 7) observed the GLA variant, but these all classified it as 'variant of unknown significance' (VUS).
Conversely, CGC 1 and 8 failed to identify the MYBPC3 mutation by their sequencing approach, and reported a diagnosis of 'Fabry's disease', and a negative diagnosis, respectively.
The central conclusion from this observation is not that CGC 1 and CGC 8 provide lower quality sequencing than the other centers.
Like CGC 1 and 8 in our study, many CGCs apply complementary Sanger-based sequencing in a routine diagnostic setting to assure sufficient coverage for all relevant regions.
This MYBPC3 mutation was not identified by CGC 1 and CGC 8, owing to low sequence coverage in the exon 26 region of this gene, where the mutation was located.
Conversely, CGC 1 – with less focus on diagnosis of cardiomyopathies – reported that 'the diagnosis of Fabry disease' was confirmed in patient 9, based on the detection of another mutation in GLA.
Similar(51)
Even though some patients with interrupted CAG repeats presented with predominant ataxia [ 37], all except one case of structurally investigated SCA2-related parkinsonism cases had interruption by CAA, CGG, and CGC [ 5, 8, 23, 24, 28].
The novel series of LCB EP copolymers were synthesized with a constrained geometry catalyst (CGC), [C5Me4(SiMe2NtBu)]TiMe2, and had various propylene molar fractions of 0.01 0.11 and long-chain branch frequencies (LCBF) of 0.05 0.22.
The control diet contained steam-flaked corn (SFC) and the other diets contained either finely (FGC; 0.8 mm) or coarsely ground corn (CGC; 1.9 mm), factorialized with or without 3.5% liquid feed (LF).
For sequencing the following primers were used: 5'-GGT GGT GGT AGA AGG TC-3' (FUT2 428), 5'-GAG GAA TAC CGC CAC-385(385) and 5'TGG ACA TAG TCC CCT C-3' (571).
Rat unc5c (1096−1761; 666 bp), forward primer: 5_GAT GGC AGG TGG ACT TCG TG3_, reverse primer: 5_GTT GAA GGT GCC AAA CGC TG3_.
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