The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1247-

  Dierking, Anna ^a   Schmidtke, Jörg ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL UTILITY GENE CARD; DIAGNOSTIC EQUIPMENT; EUROPE; GENE; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN GENETICS; LABORATORY DIAGNOSIS; LETTER; PRACTICE GUIDELINE; RISK BENEFIT ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES; TRENDS;

GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GUIDELINES AS TOPIC; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84908506113     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.23     Document Type: Letter

References (4)

1. Dierking A, Schmidtke J, Matthijs G, Cassiman JJ: The EuroGentest Clinical Utility Gene Cards continued. Eur J Hum Genet 2013; 21: 1.
2. Schmidtke J, Cassiman JJ: The EuroGentest clinical utility gene cards. Eur J Hum Genet 2010; 18: 1068.
3. Weiss MM, Van der Zwaag B, Jongbloed JD et al: Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a National Collaborative Study of Dutch Genome Diagnostic Laboratories. Hum Mutat 2013; 34: 1313-1321.
4. Rehm HL: Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 2013; 14: 295-300.