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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

Authors
  • Clause, Amanda R.1
  • Taylor, Julie P.1
  • Rajkumar, Revathi1
  • Bluske, Krista1
  • Bennett, Maren1
  • Amendola, Laura M.1
  • Brown, Carolyn
  • Brown, Matthew P.
  • Buchanan, Amanda
  • Burns, Brendan
  • Burns, Nicole J.
  • Chandrasekhar, Anjana
  • Chawla, Aditi
  • Golden-Grant, Katie
  • Kesari, Akanchha
  • Malhotra, Alka
  • Milewski, Becky
  • Sajan, Samin A.
  • Schlachetzki, Zinayida
  • Schmidt, Sarah
  • And 2 more
  • 1 Medical Genomics Research, Illumina, Inc., San Diego, CA 92122, USA
Type
Published Article
Journal
Cell Genomics
Publisher
Elsevier
Publication Date
Jan 31, 2023
Volume
3
Issue
2
Identifiers
DOI: 10.1016/j.xgen.2023.100258
PMID: 36819666
PMCID: PMC9932986
Source
PubMed Central
Keywords
Disciplines
  • Short Article
License
Unknown

Abstract

Clause et al. describe a clinical laboratory’s experience implementing reactive evaluation of gene-disease relationships within the interpretation and reporting workflow of a clinical genome sequencing test for rare genetic diseases. This work demonstrates that rigorous, reactive gene curation aids in variant interpretation and meets a critical need for clinical reporting.

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