Clinical exome sequencing-Mistakes and caveats.

Authors:
Corominas J; Smeekens SP; Nelen MR; Yntema HG; Kamsteeg EJ and 2 more

Journal:
Hum Mutat

Publication Year: 2022

DOI:
10.1002/humu.24360

PMCID:
PMC9541396

PMID:
35191116

View on PubMed View on PMC View Publisher
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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"CONFLICTS OF INTEREST The authors declare no conflicts of interest."

Evidence found in paper:

"We thank all of the laboratory specialists, bioinformaticians, technicians and the Genome Sequencing facility in Radboudumc, department of genetics and Maastricht university medical centre, department of clinical genetics. We would like to thank Conny van Ravenswaaij for help with the PLAA gene example. This study was in part supported by the Solve‐RD project that has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement no. 779257 as well as grants from the Netherlands Organization for Scientific Research (917‐17‐353 to C.G.)."

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Last Updated: Aug 05, 2025