Preliminary data from this large - scale study revealed novel variants that may influence susceptibility to EOC. (sciencedaily.com)
The CDKN2A / p16 5» UTR sequence and translational regulation: impact of novel variants predisposing to melanoma. (melgen.org)
To compare the performance of BWA, Maq, and Bowtie, we aligned the capture data with each tool separately, and looked at about a dozen sites where we'd validated novel variants from WGS. (massgenomics.org)