Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Berk ÖzyilmazÖzgür KirbiyikTaha R ÖzdemirÖzge Kaya ÖzerYaşar B KutbayKadri M ErdoganMerve Saka GüvençMurat Yildirim KaleHande GazeteciBetül KiliçFiliz SertpoyrazGulden DinizFigen BaydanPinar GençpinarNihal Olgaç DündarUluç Yiş

Published in: Annals of human genetics (2019)

The diagnosis rate achieved (33.8%) is consistent with previous literature reports and underlines the efficiency and importance of NGS technology in the molecular genetic evaluation of LGMD.

Keyphrases

copy number
muscular dystrophy
systematic review
genome wide
resistance training
adverse drug
circulating tumor
single molecule
emergency department
gene expression
body composition
high intensity
cell free