A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Miller, Neil A ^a   Farrow, Emily G ^a,b   Gibson, Margaret ^a   Willig, Laurel K ^a,b   Twist, Greyson ^a   Yoo, Byunggil ^a   Marrs, Tyler ^a   Corder, Shane ^a   Krivohlavek, Lisa ^a   Walter, Adam ^a   Petrikin, Josh E ^a,b   Saunders, Carol J ^a,b   Thiffault, Isabelle ^a   Soden, Sarah E ^a,b   Smith, Laurie D ^a,b   Dinwiddie, Darrell L ^c   Herd, Suzanne ^a   Cakici, Julie A ^a   Catreux, Severine ^d   Ruehle, Mike ^d   Kingsmore, Stephen F ^a,b,e   more..

^a Department of Otolaryngology   (United States)

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

^c UNIVERSITY OF NEW MEXICO HEALTH SCIENCES CENTER   (United States)

^d Edico Genome   (United States)

^e Rady Chlildren's Hospital Rady Pediatric Genomics and Systems Medicine Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA ISOLATION; EMERGENCY CARE; GENE MAPPING; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HEALTH CARE COST; HUMAN; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PROCESS OPTIMIZATION; RAPID TEST; SENSITIVITY AND SPECIFICITY; UNITED STATES; WHOLE GENOME SEQUENCING; DIAGNOSTIC TEST; DNA SEQUENCE; GENETIC DISEASES, INBORN; GENETICS; HUMAN GENOME; PROCEDURES;

DIAGNOSTIC TESTS, ROUTINE; GENETIC DISEASES, INBORN; GENOME, HUMAN; HUMANS; SEQUENCE ANALYSIS, DNA;

EID: 84942570636     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0221-8     Document Type: Article

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