Posted on 26th July 2018
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)
Posted on 6th July 2018
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)
Posted on 6th June 2018
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)
Posted on 3rd October 2017
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)