Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children
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)
Chances and Challenges of High-Throughput Sequencing of Mendelian Disorders
Posted on 24th July 2018
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
Posted on 24th July 2018
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