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Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Dunn PJ, Maher BH, Albury CL, Stuart S, Sutherland HG, Maksemous N, Benton MC, Smith RA, Haupt LM, Griffiths LR. Dunn PJ, et al. Mol Genet Genomics. 2020 May;295(3):751-763. doi: 10.1007/s00438-020-01657-x. Epub 2020 Mar 7. Mol Genet Genomics. 2020. PMID: 32146541
Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data.
Benton MC, Smith RA, Haupt LM, Sutherland HG, Dunn PJ, Albury CL, Maksemous N, Lea R, Griffiths L. Benton MC, et al. Among authors: dunn pj. J Mol Diagn. 2019 Nov;21(6):951-960. doi: 10.1016/j.jmoldx.2019.07.001. Epub 2019 Aug 20. J Mol Diagn. 2019. PMID: 31442673 Free article.
107 results