Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.

Wenbo MuBing LiSitao WuJefferey ChenDivya SainDong XuMary Helen BlackRachid KaramKatrina GillespieKelly D F HagmanLucia GuidugliMelissa PronoldAaron ElliottHsiao-Mei Lu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2018)

The SVs presented here can be used as a valuable resource for clinical research and diagnostics. The data illustrate NGS as a powerful tool for SV detection. Application of NGS and confirmation technologies in genetic testing ensures delivering accurate and reliable results for diagnosis and patient care.

Keyphrases

electronic health record
loop mediated isothermal amplification
big data
real time pcr
label free
copy number
high resolution
machine learning
dna methylation
mass spectrometry
artificial intelligence