Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome

Genetics in Medicine

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This paper reports the use of next-generation sequencing to identify the different gene variants causing Ehlers-Danlos syndrome in a group of 177 patients. Next-generation sequencing (NGS) is quicker and cheaper than conventional genetic sequencing and allows large amounts of DNA to be sequenced at once.
Using NGS the authors identified new molecular diagnoses in some patients. The authors conclude that, due to the advantages of genetic testing using NGS, it could be used earlier in the diagnostic process.

Published by: Springer Nature
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Genetics in Medicine Volume 18, Number 11, 1119-1127 (2016) Article first published online: 24 March 2016 Ruwan A. Weerakkody, Jana Vandrovcova, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A. Black, David Ferguson, Nicholas J. Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F. Michael Pope & Timothy J. Aitman.