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dv-trio: a family-based variant calling pipeline using DeepVariant.
Ip EKK, Hadinata C, Ho JWK, Giannoulatou E. Ip EKK, et al. Among authors: giannoulatou e. Bioinformatics. 2020 Jun 1;36(11):3549-3551. doi: 10.1093/bioinformatics/btaa116. Bioinformatics. 2020. PMID: 32315409
AVAILABILITY AND IMPLEMENTATION: dv-trio is available via an open source BSD3 license at GitHub (https://github.com/VCCRI/dv-trio/). CONTACT: e.giannoulatou@victorchang.edu.au. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
AVAILABILITY AND IMPLEMENTATION: dv-trio is available via an open source BSD3 license at GitHub (https://github.com/VCCRI/dv-trio/). CONTACT …
Binding of transcription factor GabR to DNA requires recognition of DNA shape at a location distinct from its cognate binding site.
Al-Zyoud WA, Hynson RM, Ganuelas LA, Coster AC, Duff AP, Baker MA, Stewart AG, Giannoulatou E, Ho JW, Gaus K, Liu D, Lee LK, Böcking T. Al-Zyoud WA, et al. Among authors: giannoulatou e. Nucleic Acids Res. 2016 Feb 18;44(3):1411-20. doi: 10.1093/nar/gkv1466. Epub 2015 Dec 17. Nucleic Acids Res. 2016. PMID: 26681693 Free PMC article.
Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity.
Cropley JE, Eaton SA, Aiken A, Young PE, Giannoulatou E, Ho JWK, Buckland ME, Keam SP, Hutvagner G, Humphreys DT, Langley KG, Henstridge DC, Martin DIK, Febbraio MA, Suter CM. Cropley JE, et al. Among authors: giannoulatou e. Mol Metab. 2016 Jun 23;5(8):699-708. doi: 10.1016/j.molmet.2016.06.008. eCollection 2016 Aug. Mol Metab. 2016. PMID: 27656407 Free PMC article.
SVPV: a structural variant prediction viewer for paired-end sequencing datasets.
Munro JE, Dunwoodie SL, Giannoulatou E. Munro JE, et al. Among authors: giannoulatou e. Bioinformatics. 2017 Jul 1;33(13):2032-2033. doi: 10.1093/bioinformatics/btx117. Bioinformatics. 2017. PMID: 28334120
AVAILABILITY AND IMPLEMENTATION: SVPV is available at GitHub ( https://github.com/VCCRI/SVPV/ ). CONTACT: e.giannoulatou@victorchang.edu.au. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
AVAILABILITY AND IMPLEMENTATION: SVPV is available at GitHub ( https://github.com/VCCRI/SVPV/ ). CONTACT: e.giannoulatou@victo …
Decoding the complex genetic causes of heart diseases using systems biology.
Djordjevic D, Deshpande V, Szczesnik T, Yang A, Humphreys DT, Giannoulatou E, Ho JWK. Djordjevic D, et al. Among authors: giannoulatou e. Biophys Rev. 2015 Mar;7(1):141-159. doi: 10.1007/s12551-014-0145-3. Epub 2014 Dec 10. Biophys Rev. 2015. PMID: 28509974 Free PMC article.
How to test bioinformatics software?
Kamali AH, Giannoulatou E, Chen TY, Charleston MA, McEwan AL, Ho JWK. Kamali AH, et al. Among authors: giannoulatou e. Biophys Rev. 2015 Sep;7(3):343-352. doi: 10.1007/s12551-015-0177-3. Epub 2015 Aug 13. Biophys Rev. 2015. PMID: 28510230 Free PMC article. Review.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL. Shi H, et al. Among authors: giannoulatou e. N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. N Engl J Med. 2017. PMID: 28792876 Free article.
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Szot JO, Cuny H, Blue GM, Humphreys DT, Ip E, Harrison K, Sholler GF, Giannoulatou E, Leo P, Duncan EL, Sparrow DB, Ho JWK, Graham RM, Pachter N, Chapman G, Winlaw DS, Dunwoodie SL. Szot JO, et al. Among authors: giannoulatou e. Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978. Circ Genom Precis Med. 2018. PMID: 29555671
145 results