Udo Stenzel
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View article: SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome
SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome Open
Synonymous single nucleotide variants (sSNVs), traditionally seen as neutral, are now recognized for their biological impact. To assess their relevance, we developed SyMetrics, a framework that integrates predictors of splicing, RNA stabil…
View article: The repertoire and structure of adhesion GPCR transcript variants assembled from publicly available deep-sequenced human samples
The repertoire and structure of adhesion GPCR transcript variants assembled from publicly available deep-sequenced human samples Open
Alternative splicing and multiple transcription start and termination sites can produce a diverse repertoire of mRNA transcript variants from a given gene. While the full picture of the human transcriptome is still incomplete, publicly ava…
View article: Bathometer: lightning fast depth-of-reads query
Bathometer: lightning fast depth-of-reads query Open
Motivation The query for the number of reads overlapping a given region is a common step in the analysis of Illumina sequencing data. Sometimes, these queries are not conveniently precomputable. It seems beneficial to make this kind of arb…