A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

@inproceedings{Akimoto2014ABI,
  title={A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories},
  author={Chizuru Akimoto and Alexander Erich Volk and Marka van Blitterswijk and Marleen van den Broeck and Claire S. Leblond and Serge Lumbroso and William Camu and Birgit Neitzel and Osamu Onodera and Wouter van Rheenen and Susana Pinto and Markus Weber and Bradley Smith and Melanie Proven and Kevin C Talbot and Pamela J. Keagle and Alessandra Chesi and Antonia Ratti and Julie van der Zee and Helena Alstermark and Anna Birve and Daniela Calini and Angelica Nordin and Daniela C Tradowsky and Walter Just and Hussein Daoud and Sabrina Angerbauer and Mariely Dejesus-Hernandez and T Konno and Anjali Lloyd-Jani and Mamede de Carvalho and Kevin Mouzat and John E Landers and Jan Herman Veldink and Vincenzo Silani and Aaron D Gitler and Christopher E. Shaw and Guy Rouleau and Leonard H van den Berg and Christine van Broeckhoven and Rosa Rademakers and Peter Munch Andersen and Christian Kubisch},
  booktitle={Journal of medical genetics},
  year={2014}
}
BACKGROUND The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared methods and results of 14 laboratories. METHODS The 14 laboratories genotyped DNA from 78 individuals (diagnosed with ALS or FTD) in a… CONTINUE READING
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