Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

European Journal of Medical Genetics

Volumn 60, Issue 11, 2017, Pages 595-604

  Bourchany, Aurélie ^a,b   Thauvin Robinet, Christel ^a,b   Lehalle, Daphné ^a,b   Bruel, Ange Line ^b   Masurel Paulet, Alice ^a,b   Jean, Nolwenn ^a,b   Nambot, Sophie ^a,b   Willems, Marjorie ^c   Lambert, Laetitia ^d   El Chehadeh Djebbar, Salima ^e   Schaefer, Elise ^e   Jaquette, Aurélia ^f   St Onge, Judith ^b   Poe, Charlotte ^b   Jouan, Thibaud ^b   Chevarin, Martin ^b   Callier, Patrick ^b,g   Mosca Boidron, Anne Laure ^b,g   Laurent, Nicole ^g   Lefebvre, Mathilde ^b   Huet, Frédéric ^a,b   Houcinat, Nada ^a,b   Moutton, Sébastien ^a,b   Philippe, Christophe ^b,g   Tran Mau Them, Frédéric ^b,g   Vitobello, Antonio ^g   Kuentz, Paul ^b   Duffourd, Yannis ^b   Rivière, Jean Baptiste ^b,g   Thevenon, Julien ^a,b   Faivre, Laurence ^a,b   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b UNIVERSITÉ BOURGOGNE FRANCHE COMTÉ   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d Maternite Regionale Universitaire   (France)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

Diagnostic turnaround time; Exome sequencing; Undiagnosed genetic conditions

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BLOOD; CHILD; CLINICAL ARTICLE; FAMILY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DISORDER; GENOME ANALYSIS; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTENSIVE CARE UNIT; MALE; PILOT STUDY; TURNAROUND TIME; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; DNA SEQUENCE; EARLY DIAGNOSIS; EVALUATION STUDY; EXOME; GENETIC SCREENING; NEWBORN; PRESCHOOL CHILD; PROCEDURES; SENSITIVITY AND SPECIFICITY; STANDARDS; TIME FACTOR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EARLY DIAGNOSIS; EXOME; FEMALE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TIME FACTORS;

EID: 85027699585     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2017.08.011     Document Type: Article

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