Author

Martin Granzow

Heidelberg University

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Biology Disciplines

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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 Claus Rainer Bartram· 1 shared Katrin HinderhoferiD· 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

BioinformaticsbioRxivPreprintOct 29, 2017

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

Nagarajan Paramasivam, Martin Granzow, Christina Evers…·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.

1 citation

humanwhole-exome sequencing

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