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Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Hogan, Gregory J; Vysotskaia, Valentina S; Beauchamp, Kyle A; Seisenberger, Stefanie; Grauman, Peter V; Haas, Kevin R; Hong, Sun Hae; Jeon, Diana; Kash, Shera; Lai, Henry H; Melroy, Laura M; Theilmann, Mark R; Chu, Clement S; Iori, Kevin; Maguire, Jared R; Evans, Eric A; Haque, Imran S; Mar-Heyming, Rebecca; Kang, Hyunseok P; Muzzey, Dale.
Affiliation
  • Hogan GJ; Counsyl, Inc., South San Francisco, CA.
  • Vysotskaia VS; Counsyl, Inc., South San Francisco, CA.
  • Beauchamp KA; Counsyl, Inc., South San Francisco, CA.
  • Seisenberger S; Counsyl, Inc., South San Francisco, CA.
  • Grauman PV; Counsyl, Inc., South San Francisco, CA.
  • Haas KR; Counsyl, Inc., South San Francisco, CA.
  • Hong SH; Counsyl, Inc., South San Francisco, CA.
  • Jeon D; Counsyl, Inc., South San Francisco, CA.
  • Kash S; Counsyl, Inc., South San Francisco, CA.
  • Lai HH; Counsyl, Inc., South San Francisco, CA.
  • Melroy LM; Counsyl, Inc., South San Francisco, CA.
  • Theilmann MR; Counsyl, Inc., South San Francisco, CA.
  • Chu CS; Counsyl, Inc., South San Francisco, CA.
  • Iori K; Counsyl, Inc., South San Francisco, CA.
  • Maguire JR; Counsyl, Inc., South San Francisco, CA.
  • Evans EA; Counsyl, Inc., South San Francisco, CA.
  • Haque IS; Counsyl, Inc., South San Francisco, CA.
  • Mar-Heyming R; Counsyl, Inc., South San Francisco, CA.
  • Kang HP; Counsyl, Inc., South San Francisco, CA.
  • Muzzey D; Counsyl, Inc., South San Francisco, CA. research@counsyl.com.
Clin Chem ; 64(7): 1063-1073, 2018 07.
Article in En | MEDLINE | ID: mdl-29760218
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / DNA Copy Number Variations / Genetic Carrier Screening Type of study: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Clin Chem Journal subject: QUIMICA CLINICA Year: 2018 Type: Article Affiliation country: Canada
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / DNA Copy Number Variations / Genetic Carrier Screening Type of study: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Clin Chem Journal subject: QUIMICA CLINICA Year: 2018 Type: Article Affiliation country: Canada