Author

Claus Rainer Bartram

Heidelberg University

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Bioinformatics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

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Christina EversiD· 1 shared Katrin HinderhoferiD· 1 shared Martin Granzow· 1 shared Matthias SchlesneriD· 1 shared Nagarajan ParamasivamiD· 1 shared Roland EilsiD· 1 shared Stefan WiemanniD· 1 shared

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2017-2017 · peak 1/yr

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Christina EversORCID

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1 paper

Recent·Most cited

Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

Nagarajan Paramasivam, Martin Granzow, Christina Evers, Katrin Hinderhofer, Stefan Wiemann, Claus Rainer Bartram, Roland Eils, Matthias Schlesner

This paper presents a pipeline for identifying and prioritizing causal variants in genetic disorders using exome or whole genome sequencing data, achieving success in over 35% of neurodevelopmental disorder cases.

bioRxiv · Oct 29, 2017 · PreprintBioinformatics