Author

Márton Münz

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Genomics· 1

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

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Ann Strydom· 1 shared Anthony Renwick· 1 shared Elise RuarkiD· 1 shared Emma Ramsay· 1 shared Gerton Lunter· 1 shared Matthew Clarke· 1 shared Nazneen RahmaniD· 1 shared Shazia Mahamdallie· 1 shared

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2015-2015 · peak 1/yr

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1 shared paperGenomics

Ann Strydom

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1 paper

Recent·Most cited

GenomicsGenome MedicinePeer-reviewedJul 28, 2015

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinic

Márton Münz, Elise Ruark, Anthony Renwick…·Nazneen Rahman

This paper introduces CSN and CAVA, tools for standardized, rapid variant annotation of NGS data, showing high accuracy and clinical relevance in BRCA1/BRCA2 analysis.

DOI 10.1186/s13073-015-0195-6

humanwhole-exome sequencing

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