![]() ![]() If the test includes the mitochondrial genome the target region gene list contains the mitochondrial genes. Some regions of the gene(s) may be removed from the panel if specifically mentioned in the ‘Test limitations” section above. In addition, the panel includes non-coding and regulatory variants if listed above (Non-coding variants covered by the panel). The target region for each gene includes coding exons and ☒0 base pairs from the exon-intron boundary. Rho zero cell line (=no mtDNA), mean sequencing depth Heteroplasmic (1000x MQ0 sequencing coverage (%) (clinical) ![]() The performance metrics of our laboratory in Marlborough, MA, are equivalent. The performance metrics listed below are from an initial validation performed at our main laboratory in Finland. Blueprint Genetics’ Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis. Plus analysis increases the likelihood of finding a genetic diagnosis for your patient, as large deletions and duplications cannot be detected using sequence analysis alone. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. These sample types were selected in order to maximize the likelihood for high-quality DNA yield. Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table).Īssays have been validated for various sample types including EDTA-blood, isolated DNA (excluding from formalin fixed paraffin embedded tissue), saliva and dry blood spots (filter cards). Our panels are sectioned from our high-quality, clinical grade NGS assay. The genes on the panel have been carefully selected based on scientific literature, mutation databases and our experience. Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data.Our rigorous variant classification scheme.~2,000 non-coding disease causing variants in our clinical grade NGS assay for panels (please see ‘Non-coding disease causing variants covered by this panel’ in the Panel Content section).Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level.Some of the panels include the whole mitochondrial genome (please see the Panel Content section).Careful construction of clinically effective and scientifically justified gene panels.Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance.CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory.What this process might reveal remains unclear, of course, but cetotheriids are certainly back in the running. But anatomical data sets will now need to be re-examined to weed out the effects of convergence. Many palaeontologists remain sceptical about this idea and instead have clung to the traditional grouping of Caperea with right whales. What, then, fills the gap? One possibility is that Caperea sprang from the cetotheriids, an ancient family of whales once thought to be extinct. The oldest recognisable fossils, however, are just 10 million years old. Molecular dating suggests it diverged from other whales at least 14 million years ago, and perhaps much earlier. To start answering this, we need to consider the great antiquity of Caperea‘s ancestry. Proving that Caperea is not a right whale raises another question: why is it so unlike its rorqual cousins? The fossil skull of the Late Miocene cetotheriid Piscobalaena nana from the Muséum National d’Histoire Naturelle. Their similarities are the result of convergent evolution. The skull of Caperea resembles that of right whales because both need to accommodate long baleen plates for skim feeding. Just think of the streamlined bodies of sharks, whales and the extinct ichthyosaurs. But anatomical family trees have a nemesis: convergence.Ĭonvergent evolution happens when unrelated species evolve similar traits. Such disagreements are normal in science and do not diminish the importance of anatomy, which, after all, remains the only way to study the 99% of species that are already extinct. Time and again, genes allied Caperea with rorquals, rather than right whales. Molecular data for Caperea first became available in the 1990s and immediately challenged the traditional view. The implications of this brief comparison are obvious: Caperea resembles right whales far more than it does rorquals, and so must have the same evolutionary origin. They then expel the water through their short, coarsely-fringed baleen and trap any prey inside the mouth. Unlike Caperea, they feed in short bouts during which they engulf enormous amounts of water and prey in expandable throat pouches. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |