How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples

Frontiers in Genetics

Volumn 6, Issue JUL, 2015, Pages

  Middha, Sumit ^a   Lindor, Noralane M ^b,c   McDonnell, Shannon K ^c   Olson, Janet E ^c   Johnson, Kiley J ^c,d   Wieben, Eric D ^c   Farrugia, Gianrico ^c,e   Cerhan, James R ^c   Thibodeau, Stephen N ^c  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b MAYO CLINIC   (United States)

^c MAYO CLINIC   (United States)

^d Informed DNA   (United States)

^e MAYO CLINIC   (United States)

Author keywords

EMR; Exome; Genotype; HGMD; OMIM; Phenotype; Sequencing

Indexed keywords

APOLIPOPROTEIN B; BRCA2 PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; SMAD3 PROTEIN;

ALLELE; ARTICLE; BIOINFORMATICS; CANCER DIAGNOSIS; ELECTRONIC MEDICAL RECORD; EXOME; EXOME SEQUENCING; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENOTYPE; HUMAN; INHERITANCE; MENDELIAN RANDOMIZATION ANALYSIS; PHENOTYPE; TUMOR GENE;

EID: 84940110167     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2015.00244     Document Type: Article

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