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A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S, Dawkins HJS, Dreyer L, Goldblatt J, Groza T, Kamien B, Kiraly-Borri C, McKenzie F, Murphy L, Pachter N, Pathak G, Poulton C, Samanek A, Skoss R, Slee J, Townshend S, Ward M, Baynam GS, Blackwell JM. Lassmann T, et al. NPJ Genom Med. 2020 Dec 10;5(1):54. doi: 10.1038/s41525-020-00161-w. NPJ Genom Med. 2020. PMID: 33303739 Free PMC article.
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Among authors: lassmann t. Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7. Orphanet J Rare Dis. 2016. PMID: 27287197 Free PMC article.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G. Boycott KM, et al. Among authors: lassmann t. Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040. Cell. 2019. PMID: 30901545 Free article.
Personalised analytics for rare disease diagnostics.
Anderson D, Baynam G, Blackwell JM, Lassmann T. Anderson D, et al. Among authors: lassmann t. Nat Commun. 2019 Nov 21;10(1):5274. doi: 10.1038/s41467-019-13345-5. Nat Commun. 2019. PMID: 31754101 Free PMC article.
Reference exome data for a Northern Brazilian population.
Weeks AL, Francis RW, Neri JICF, Costa NMC, Arrais NMR, Lassmann T, Blackwell JM, Jeronimo SMB. Weeks AL, et al. Among authors: lassmann t. Sci Data. 2020 Oct 21;7(1):360. doi: 10.1038/s41597-020-00703-y. Sci Data. 2020. PMID: 33087711 Free PMC article.
126 results