Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.
Shanghai Children's Medical Center, Jiaotong University School of Medicine, Shanghai, China.
Yongguo
Y
Yu
Bai-lin
BL
Wu
Jie
J
Wu
Yiping
Y
Shen
D004194:Disease / Q000235:genetics*; D059472:Exome; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D011933:Reagent Kits, Diagnostic; D017422:Sequence Analysis, DNA / Q000379:methods*
D011933:Reagent Kits, Diagnostic