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Use cases, posters and white papers

Learn how Genalice makes a difference.

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children

Boukhibar L., Clement E., Jones W., Drury S., Ocaka L., Gagunashvili A., Le Quesne Stabej P., Bacchelli C., Jani N., Rahman S., Jenkins L., Hurst J., Bitner-Glindzicz M., Peters M., Beales P., Williams, H.J. Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics doi: 10.1136/ jmedgenet-2018-105396 (2018)


A characterization of postzygotic mutations identified in monozygotic twins

Ouwens K.G., Jansen R., Tolhuis B., Slagboom P.E., Penninx B.W.J.H., Boomsma D.I. A characterization of postzygotic mutations identified in monozygotic twins. Human Mutations doi: 10.1002/humu.23586 (2018)


Validation of an ultra-fast CNV calling tool for Next Generation Sequencing data using MLPA-verified copy number alterations

Tolhuis B., Karten J. Validation of an ultra-fast CNV calling tool for Next Generation Sequencing data using MLPA-verified copy number alterations. bioRxiv doi: 10.1101/340505 (2018)


Chances and Challenges of High-Throughput Sequencing of Mendelian Disorders

Meienberg J., Kopps A., Plüss M., Caspar S., Dubacher N., Matyas G. Zentrum für Kardiovaskuläre Genetik und Gendiagnostik, Schlieren-Zurich, Switzerland


A comparison of the GATK and Genalice joint genotyping callers on a Swedish population of WGS data samples

Juhos S., Borgström E., Käller M. Science for Life Laboratory, Stockholm, Sweden


The need for speed: with the Rapid Paediatric Sequencing (RaPS) project, the UCL/GOSH is helping to deliver rapid genetic diagnosis to critically ill children on intensive care units in the UK

Front Line Genomics Magazine interview with Hywel Williams.


Variant calling quality enhancement within a large breeding population

Van Oeveren J., Janssen A., van Ham R. Keygene N.V., Wagenigen, the Netherlands.


Genalice Population module to boost variant calling in trio-sequencing

Need for speed in accurate whole-genome data analysis: Genalice Map challenges BWA/GATK more than PEMapper/PECaller and Isaac

Plüss M., Kopps A.M., Keller I., Meienberg J., Caspar S.M., Dubacher N., Bruggmann R., Vogel M., Matyas G. Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac. PNAS 114 (40) E8320-E8322 (2017)


High quality variants from 1,000 Drosophila genomes in a day using Genalice Population