ClinLabGeneticist: A tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Wang, Jinlian ^a   Liao, Jun ^a   Zhang, Jinglan ^a   Cheng, Wei Yi ^a   Hakenberg, Jörg ^a   Ma, Meng ^a   Webb, Bryn D ^a   Ramasamudram chakravarthi, Rajasekar ^a   Karger, Lisa ^a   Mehta, Lakshmi ^a   Kornreich, Ruth ^a   Diaz, George A ^a   Li, Shuyu ^a   Edelmann, Lisa ^a   Chen, Rong ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL DECISION MAKING; CLINICAL GENETICS; CLINICAL LABORATORY; COMPUTER PROGRAM; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DATA BASE; DIAGNOSIS; EXOME; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; INFORMATION PROCESSING; MALE; PRIORITY JOURNAL; SCHOOL CHILD; WORKFLOW; BIOLOGY; CLINICAL LABORATORY SERVICE; DEVELOPMENTAL DISORDER; DNA SEQUENCE; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES; SOFTWARE;

CHILD; CLINICAL LABORATORY SERVICES; COMPUTATIONAL BIOLOGY; DEVELOPMENTAL DISABILITIES; EXOME; GENETIC TESTING; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; PORPHYRIA, ERYTHROPOIETIC; SEQUENCE ANALYSIS, DNA; SOFTWARE; WORKFLOW;

EID: 84940843853     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0207-6     Document Type: Article

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