like to thank Anna Berit Wennerstro¨m for her technical assistance. Author Contributions Conceptualization: Geir Kjetil Sandve, Diana Domanska. 10 / 12 Data curation: Sumana Kalyanasundaram, Yohan ... Lefol, Torbjørn Rognes, Lene Alsøe, Hilde Loge Nilsen. Formal analysis: Sumana Kalyanasundaram, Yohan Lefol, Hilde Loge Nilsen, Diana Domanska. Investigation: Diana Domanska. Methodology: Geir Kjetil
Wood, Hedvig Nordeng, Geir Kjetil Sandve. Data curation: Stefania Salvatore, Diana Domanska. Formal analysis: Stefania Salvatore, Geir Kjetil Sandve. 9 / 11 Methodology: Stefania Salvatore. Writing ... ± original draft: Stefania Salvatore. Writing ± review & editing: Stefania Salvatore, Diana Domanska, Mollie Wood, Hedvig Nordeng, Geir Kjetil Sandve. 10 / 11 1. Grzeskowiak LE , Gilbert AL , Morrison JL
The current versions of reference genome assemblies still contain gaps represented by stretches of Ns. Since high throughput sequencing reads cannot be mapped to those gap regions, the regions are depleted of experimental data. Moreover, several technology platforms assay a targeted portion of the genomic sequence, meaning that regions from the unassayed portion of the genomic...
Genomic locations are represented as coordinates on a specific genome build version, but the build information is frequently missing when coordinates are provided. We show that this information is essential to correctly interpret and analyse the genomic intervals contained in genomic track files. Although not a substitute for best practices, we also provide a tool to predict the...
A visualization referred to as rainfall plot has recently gained popularity in genome data analysis. The plot is mostly used for illustrating the distribution of somatic cancer mutations along a reference genome, typically aiming to identify mutation hotspots. In general terms, the rainfall plot can be seen as a scatter plot showing the location of events on the x-axis versus the...
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