Clinical analysis of genome next-generation sequencing data using the Omicia platform

Expert Review of Molecular Diagnostics

Volumn 13, Issue 6, 2013, Pages 529-540

  Coonrod, Emily M ^a   Margraf, Rebecca L ^a   Russell, Archie ^b   Voelkerding, Karl V ^a,c   Reese, Martin G ^b  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b Omicia Inc   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

analysis and selection tool; genome analysis; next generation sequencing; variant annotation; variant workflows; whole genome sequencing

Indexed keywords

ARTICLE; CLINICAL LABORATORY; COMPUTER PROGRAM; GENE SEQUENCE; GENETIC DISORDER; HUMAN; RECEIVER OPERATING CHARACTERISTIC;

CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMAN GENOME PROJECT; HUMANS; MOLECULAR MEDICINE; PATHOLOGY, MOLECULAR; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 84881104150     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2013.811907     Document Type: Article

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