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SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
BMC Genomics. 2023 Jun 6;24(1):305. doi: 10.1186/s12864-023-09391-5.
BMC Genomics. 2023.
PMID: 37280537
Free PMC article.
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.
Vorsteveld EE, Hoischen A, van der Made CI.
Vorsteveld EE, et al.
Clin Rev Allergy Immunol. 2021 Oct;61(2):212-225. doi: 10.1007/s12016-021-08838-5. Epub 2021 Mar 5.
Clin Rev Allergy Immunol. 2021.
PMID: 33666867
Free PMC article.
Review.
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