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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause, Amanda R; Taylor, Julie P; Rajkumar, Revathi; Bluske, Krista; Bennett, Maren; Amendola, Laura M; Bentley, David R; Taft, Ryan J; Perry, Denise L; Coffey, Alison J.
Affiliation
  • Clause AR; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Taylor JP; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Rajkumar R; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Bluske K; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Bennett M; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Amendola LM; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Bentley DR; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Taft RJ; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Perry DL; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
  • Coffey AJ; Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA.
Cell Genom ; 3(2): 100258, 2023 Feb 08.
Article in En | MEDLINE | ID: mdl-36819666
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Guideline / Prognostic_studies Language: En Journal: Cell Genom Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Guideline / Prognostic_studies Language: En Journal: Cell Genom Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos