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Framework for quality assessment of whole genome cancer sequences
<jats:title>Abstract</jats:title> <jats:p>Bringing together cancer genomes from different projects increases power and allows the investigation of pan-cancer, ...
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Annotating high-impact 5’untranslated region variants with the UTRannotator
<jats:title>Abstract</jats:title><jats:sec><jats:title>Summary</jats:title><jats:p>Current tools to annotate the predicted effect of genetic variants are ...
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Approach to Stationarity of the Bernoulli–Laplace Diffusion Model
<jats:p>Two urns initially contain <jats:italic>r</jats:italic> red balls and <jats:italic>n – r</jats:italic> black balls respectively. At each time epoch a ...
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Cell type identity determines transcriptomic immune responses in Arabidopsis thaliana roots
<jats:title>Abstract</jats:title><jats:p>Root pathogens are a major threat in global crop production and protection strategies are required to sustainably ...
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CardioClassifier – demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation
<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Purpose</jats:title><jats:p>Internationally-adopted variant interpretation guidelines from the American ...