Hence for each nucleotide position in a primer site, there were only three possible variants of the initial sequence, and a scale of 0 to 3 was used; invariant positions scored zero.
Our demonstration of the absence of 5hmC, 5fC and 5caC in rat germ cells during the re-establishment of DNA methylation between e19.5 and e21.5 further supports the hypothesis that these variants form part of the initial demethylation pathway in the male germline [ 29].
In other variants of FSGS the initial pathologic step is regularly the adhesion formation between the glomerular capillary tuft and Bowman's capsule caused by the synechia of the denuded glomerular basement membrane (GBM) to the PECs [ 28].
We identified this specific isoform as the major MyBPC variant at the initial phases of myofibrillogenesis in human skeletal muscle myoblasts and early myotubes, indicating that it is the main MyBPC isoform involved in early myofibril development.
This rare headache variant was the initial presenting symptom of MS. The patient was diagnosed as having MS according to the new McDonald's criteria (2011 revision)[9], although we used Barkoff Tintoré criteria before, which were the most specific MRI criteria available for assessing the risk of conversion to MS after clinically isolated syndromes [10, 11].
Poorly-imputable variants (MAF < 0.3 %) were 43.1 % of variants in the initial reference panel.
There was, however, significant diversity within the associations of stent thrombosis with loss of function variants between the initial (almost simultaneously published) studies of Mega et al 34 and Collet et al 66 and the subsequent studies (z=2.39, P=0.017).
The number of variant reads in the initial run showed to be more accurate to predict the reproducibility of the variant in a second run, with an area under the curve of 0.894 (P⩽0.001; 95% CI, 0.817-0.970), then the clonal size (VAF) (area under the curve: 0.613; P=0.037; 95% CI, 0.487 0.738; Supplementary Figures 1A and 1B).
For VSTM1, a top gene driven by the gene-based test, we further validated eight rare variants in VSTM1 using Sanger sequencing with the same samples that were heterozygous for any of those variants in the initial sequencing stage; 29 of 31 samples were validated as heterozygous (false-positive rate = 6.45% (2/31)).
