Clinical validation of targeted next-generation sequencing for inherited disorders

Archives of Pathology and Laboratory Medicine

Volumn 139, Issue 2, 2015, Pages 204-210

  Yohe, Sophia ^a   Hauge, Adam ^b   Bunjer, Kari ^b   Kemmer, Teresa ^c   Bower, Matthew ^a,c   Schomaker, Matthew ^c   Onsongo, Getiria ^d   Wilson, Jon ^a   Erdmann, Jesse ^d   Zhou, Yi ^a   Deshpande, Archana ^b   Spears, Michael D ^a   Beckman, Kenneth ^b   Silverstein, Kevin A T ^d   Thyagarajan, Bharat ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b University of Minnesota Genomics Center   (United States)

^c UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

^d UNIVERSITY OF MINNESOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGY; COPY NUMBER VARIATION; DNA SEQUENCE; EXON; FEASIBILITY STUDY; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES; RARE DISEASES; STANDARDS; VALIDATION STUDY;

COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; EXONS; FEASIBILITY STUDIES; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; RARE DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84921527869     PISSN: 00039985     EISSN: 15432165     Source Type: Journal    
DOI: 10.5858/arpa.2013-0625-OA     Document Type: Article

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