Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTERESTS All authors are salaried employees of Ambry Genetics."
"We are thankful for all the families for their participation, and for the clinicians for sharing the clinical histories and playing a critical role in recruitment, and researchers for their ongoing collaboration. We thank Sha Tang, Zoe Powis, and Taylor Cain for their work with GeneMatcher entry evaluations and submissions. No grant funding was used for this study."
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Assessment Info
Tool: rtransparent
OST Version: N/A
Last Updated: Aug 05, 2025