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)


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


Need for speed in accurate whole-genome data analysis: 42Genetics 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: 42Genetics MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac. PNAS 114 (40) E8320-E8322 (2017)

http://www.pnas.org/content/114/40/E8320