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Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: ardeshirdavani a. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN. Zemojtel T, et al. Among authors: ardeshirdavani a. Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262. Sci Transl Med. 2014. PMID: 25186178 Free PMC article.
eXtasy: variant prioritization by genomic data fusion.
Sifrim A, Popovic D, Tranchevent LC, Ardeshirdavani A, Sakai R, Konings P, Vermeesch JR, Aerts J, De Moor B, Moreau Y. Sifrim A, et al. Among authors: ardeshirdavani a. Nat Methods. 2013 Nov;10(11):1083-4. doi: 10.1038/nmeth.2656. Epub 2013 Sep 29. Nat Methods. 2013. PMID: 24076761 Free article.
Galahad: a web server for drug effect analysis from gene expression.
Laenen G, Ardeshirdavani A, Moreau Y, Thorrez L. Laenen G, et al. Among authors: ardeshirdavani a. Nucleic Acids Res. 2015 Jul 1;43(W1):W208-12. doi: 10.1093/nar/gkv436. Epub 2015 May 4. Nucleic Acids Res. 2015. PMID: 25940630 Free PMC article.
Beegle: from literature mining to disease-gene discovery.
ElShal S, Tranchevent LC, Sifrim A, Ardeshirdavani A, Davis J, Moreau Y. ElShal S, et al. Among authors: ardeshirdavani a. Nucleic Acids Res. 2016 Jan 29;44(2):e18. doi: 10.1093/nar/gkv905. Epub 2015 Sep 17. Nucleic Acids Res. 2016. PMID: 26384564 Free PMC article.
Candidate gene prioritization with Endeavour.
Tranchevent LC, Ardeshirdavani A, ElShal S, Alcaide D, Aerts J, Auboeuf D, Moreau Y. Tranchevent LC, et al. Among authors: ardeshirdavani a. Nucleic Acids Res. 2016 Jul 8;44(W1):W117-21. doi: 10.1093/nar/gkw365. Epub 2016 Apr 30. Nucleic Acids Res. 2016. PMID: 27131783 Free PMC article.
Towards practical privacy-preserving genome-wide association study.
Bonte C, Makri E, Ardeshirdavani A, Simm J, Moreau Y, Vercauteren F. Bonte C, et al. Among authors: ardeshirdavani a. BMC Bioinformatics. 2018 Dec 20;19(1):537. doi: 10.1186/s12859-018-2541-3. BMC Bioinformatics. 2018. PMID: 30572817 Free PMC article.
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