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A clinical laboratory's experience using GeneMatcher -- building stronger gene-disease relationships.
  • +10
  • Julie Taylor,
  • Alka Malhotra,
  • Nicole Burns,
  • Amanda Clause,
  • Carolyn Brown,
  • Brendan Burns,
  • Anjana Chandrasekhar,
  • Zina Schlachetzki,
  • Maren Bennett,
  • Erin Thorpe,
  • Ryan Taft,
  • Denise Perry,
  • Alison Coffey
Julie Taylor
Illumina Inc

Corresponding Author:[email protected]

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Alka Malhotra
Illumina Inc.
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Nicole Burns
Illumina Inc
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Amanda Clause
Illumina Inc
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Carolyn Brown
Illumina Inc
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Brendan Burns
Illumina Inc
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Anjana Chandrasekhar
Illumina Inc
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Zina Schlachetzki
Illumina Inc
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Maren Bennett
Illumina Inc
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Erin Thorpe
Illumina Inc
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Ryan Taft
Illumina Inc.
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Denise Perry
Illumina Inc.
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Alison Coffey
Illumina Inc
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Abstract

The use of whole-genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the search for novel disease genes and variants. GeneMatcher (GM) is designed to facilitate connections between researchers, clinicians, health-care providers and others to help in the identification of additional patients with variants in the same candidate disease genes. The Illumina Clinical Services Laboratory offers a WGS test for patients with suspected rare and undiagnosed genetic disease and regularly submits potential candidate genes to GM to strengthen gene-disease relationships. We describe our experience with GM, including criteria for evaluation of candidate genes, and our workflow for the submission and review process. We have made 69 submissions, 36 of which are currently active. Ten per cent of submissions have resulted in publications, with an additional 14 submissions part of ongoing collaborations and expected to result in a publication.
07 Oct 2021Submitted to Human Mutation
08 Oct 2021Submission Checks Completed
08 Oct 2021Assigned to Editor
10 Oct 2021Reviewer(s) Assigned
06 Dec 2021Review(s) Completed, Editorial Evaluation Pending
07 Dec 2021Editorial Decision: Revise Minor
17 Jan 20221st Revision Received
19 Jan 2022Submission Checks Completed
19 Jan 2022Assigned to Editor
27 Jan 2022Review(s) Completed, Editorial Evaluation Pending
08 Feb 2022Editorial Decision: Revise Minor
11 Feb 20222nd Revision Received
12 Feb 2022Submission Checks Completed
12 Feb 2022Assigned to Editor
12 Feb 2022Review(s) Completed, Editorial Evaluation Pending
17 Feb 2022Editorial Decision: Accept
Mar 2022Published in Human Mutation. 10.1002/humu.24356