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Foley SB, Rios JJ, Mgbemena VE, et al. Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. EBioMedicine. 2015;2(1):74-81doi: 10.1016/j.ebiom.2014.12.003.
Foley, S. B., Rios, J. J., Mgbemena, V. E., Robinson, L. S., Hampel, H. L., Toland, A. E., Durham, L., & Ross, T. S. (2015). Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. EBioMedicine, 2(1), 74-81. https://doi.org/10.1016/j.ebiom.2014.12.003
Foley, Samantha B, et al. "Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic." EBioMedicine vol. 2,1 (2015): 74-81. doi: https://doi.org/10.1016/j.ebiom.2014.12.003
Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS. Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. EBioMedicine. 2015 Jan;2(1):74-81. doi: 10.1016/j.ebiom.2014.12.003. PMID: 26023681; PMCID: PMC4444225.
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EBioMedicine. 2015 Jan;2(1):74-81. doi: 10.1016/j.ebiom.2014.12.003.

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

EBioMedicine

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

Affiliations

  1. Department of Internal Medicine, UT Southwestern Medical Center, Dallas TX, 75390, USA.
  2. Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA ; Department of Pediatrics, McDermott Center for Human Growth and Development, and Department of Orthopaedic Surgery, UT Southwestern Medical Center, Dallas, Texas 75390, USA.
  3. Department of Cancer Genetics, UT Southwestern Medical Center, Dallas, TX, 75390, USA.
  4. Department of Human Genetics, Ohio State University, Columbus, OH, 43210, USA.
  5. Department of Internal Medicine, UT Southwestern Medical Center, Dallas TX, 75390, USA ; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.
  6. Department of Internal Medicine, UT Southwestern Medical Center, Dallas TX, 75390, USA ; Department of Cancer Genetics, UT Southwestern Medical Center, Dallas, TX, 75390, USA.

PMID: 26023681 PMCID: PMC4444225 DOI: 10.1016/j.ebiom.2014.12.003

Abstract

Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with

Keywords: BRCA1/2; Cancer genetics; ClinVar; Pathogenic variants; Single nucleotide variant; Whole-genome sequence

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