Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

EBioMedicine

Volumn 2, Issue 1, 2015, Pages 74-81

  Foley, Samantha B ^a   Rios, Jonathan J ^a,b   Mgbemena, Victoria E ^a   Robinson, Linda S ^a   Hampel, Heather L ^c   Toland, Amanda E ^c   Durham, Leslie ^a,b   Ross, Theodora S ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

BRCA1 2; Cancer genetics; ClinVar; Pathogenic variants; Single nucleotide variant; Whole genome sequence

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2B;

ARTICLE; CANCER GENETICS; CANCER RISK; CONTROLLED STUDY; FALSE NEGATIVE RESULT; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOME; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SENSITIVITY AND SPECIFICITY;

EID: 84927702787     PISSN: None     EISSN: 23523964     Source Type: Journal    
DOI: 10.1016/j.ebiom.2014.12.003     Document Type: Article

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