High-throughput sequencing as first-tier diagnostics in congenital and early-onset disorders

JAMA Pediatrics

Volumn 171, Issue 9, 2017, Pages 833-835

  Lemke, Johannes R ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL EVALUATION; CONGENITAL MALFORMATION; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; EDITORIAL; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; HUMAN; IMAGING; INTELLECTUAL IMPAIRMENT; ONSET AGE; PATIENT CARE; PHENOTYPE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; CHILD; COST BENEFIT ANALYSIS;

CHILD; COST-BENEFIT ANALYSIS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; WHOLE EXOME SEQUENCING;

EID: 85029009875     PISSN: 21686203     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamapediatrics.2017.1970     Document Type: Editorial

References (11)

1. Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions [published online July 31, 2017]. JAMA Pediatr. doi:10.1001/jamapediatrics.2017.1755
2. Berg AT, Coryell J, Saneto RP, et al. Early-life epilepsies and the emerging role of genetic testing [published online July 31, 2017]. JAMA Pediatr. doi: 10.1001/jamapediatrics.2017.1743
3. Yubero D, Brandi N, Ormazabal A, et al;Working Group. Targeted next generation sequencing in patients with inborn errors of metabolism. PLoS One. 2016;11(5):e0156359.
4. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56 (5):707-716.
5. Møller RS, Larsen LH, Johannesen KM, et al. Gene Panel testing in epileptic encephalopathies and familial epilepsies. Mol Syndromol. 2016;7(4):210-219.
6. Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81(3):419-429.
7. Trump N, McTague A, Brittain H, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016;53(5):310-317.
8. Helbig KL, Farwell Hagman KD, Shinde DN, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016;18(9): 898-905.
9. Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18(7): 696-704.
10. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
11. Stark Z, Tan TY, Chong B, et al; Melbourne Genomics Health Alliance. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18(11):1090-1096.