Clinical genome sequencing in an unbiased pediatric cohort

Genetics in Medicine

Volumn 21, Issue 2, 2019, Pages 303-310

  Thiffault, Isabelle ^a,b,c   Farrow, Emily ^a,b,c   Zellmer, Lee ^a,c   Berrios, Courtney ^a,b   Miller, Neil ^a   Gibson, Margaret ^a   Caylor, Raymond ^c   Jenkins, Janda ^b,c   Faller, Deb ^a   Soden, Sarah ^a,b,c   Saunders, Carol ^a,b,c  

^a Center for Pediatric Genomic Medicine   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^c Children’s Mercy–Kansas City ^*  (United States)

Author keywords

Clinical validation; Diagnostics; Genome sequencing; Insurance reimbursement; Next generation sequencing

Indexed keywords

ARTICLE; CHILD; DIAGNOSIS; ELECTRONIC MEDICAL RECORD; FEMALE; GENE DELETION; GOVERNMENT; HOSPITAL PATIENT; HUMAN; INFORMATION RETRIEVAL; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; NEXT GENERATION SEQUENCING; OUTPATIENT; REIMBURSEMENT; RETROSPECTIVE STUDY; VALIDATION PROCESS; WHOLE EXOME SEQUENCING; COHORT ANALYSIS; DIAGNOSTIC TEST; DNA SEQUENCE; ECONOMICS; ELECTRONIC HEALTH RECORD; GENETIC DISORDER; GENETIC SCREENING; HUMAN GENOME; PHENOTYPE; VALIDATION STUDY;

CHILD; COHORT STUDIES; DIAGNOSTIC TESTS, ROUTINE; ELECTRONIC HEALTH RECORDS; GENETIC DISEASES, INBORN; GENETIC TESTING; GENOME, HUMAN; HUMANS; INSURANCE, HEALTH, REIMBURSEMENT; PHENOTYPE; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING;

EID: 85049905337     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/s41436-018-0075-8     Document Type: Review

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