Other posts tagged as: Publication


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)


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)