Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

@article{McInerneyLeo2015WholeES,
  title={Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.},
  author={Aideen M McInerney-Leo and Jessica E Harris and Paul J Leo and Mhairi S Marshall and Brooke B A Gardiner and Esther Kinning and Huey Yin Leong and Fiona A McKenzie and Winnie Peitee Ong and Julia Vodopiutz and Carol Wicking and Matthew A Brown and Andreas Zankl and Emma L. Duncan},
  journal={Clinical genetics},
  year={2015},
  volume={88 6},
  pages={550-7}
}
Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome… CONTINUE READING
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