共 123 条
[1]
Clark MM(2018)Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases NPJ Genom Med 3 529-39
[2]
Stark Z(2020)Being precise about precision medicine: what should value frameworks incorporate to address precision medicine? A report of the personalized precision medicine special interest group Value Health 23 451-60
[3]
Farnaes L(2020)Clinical utility of genomic testing: a measurement toolkit NPJ Genom Med 5 3-11
[4]
Tan TY(2021)Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies Genet Med 23 365-77
[5]
White SM(1997)Screening for disease AJR Am J Roentgenol 168 124-32
[6]
Dimmock D(2021)Opportunistic genomic screening. Recommendations of the European Society of Human Genetics Eur J Hum Genet 29 e1766-16
[7]
Faulkner E(2019)Secondary findings from next-generation sequencing: what does actionable in childhood really mean? Genet Med 21 1403-33
[8]
Holtorf A-P(2021)A study of elective genome sequencing and pharmacogenetic testing in an unselected population. Molecular Genetics & Genomic Medicine 9 22-86
[9]
Walton S(2021)The clinical utility of exome and genome sequencing across clinical indications: a systematic review Hum Genet 140 378-30
[10]
Liu CY(2021)Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis Genet Med 23 1122-8