Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge

Human Mutation

Volumn 35, Issue 4, 2014, Pages 413-423

  Kassahn, Karin S ^a,c   Scott, Hamish S ^b,c   Caramins, Melody C ^d,e  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b Centre for Cancer Biology SA Pathology   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e SDS Pathology   (Australia)

Author keywords

Clinical annotation; Clinical reporting; Databases; Diagnostics; Next generation sequencing; Pathogenicity prediction

Indexed keywords

CLINICAL GENETICS; COMPUTER PROGRAM; GENE SEQUENCE; GENETIC VARIABILITY; GENOMICS; HEALTH CARE MANAGEMENT; HUMAN; MASSIVELY PARALLEL SEQUENCING; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; WORKFLOW; GENETIC PREDISPOSITION; HIGH THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; PRACTICE GUIDELINE; STANDARDS;

GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE ANNOTATION; PRACTICE GUIDELINES AS TOPIC; SOFTWARE; WORKFLOW;

EID: 84896118646     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22525     Document Type: Review

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