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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q; Human Genome Structural Variation Consortium (HGSVC); Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO. Porubsky D, et al. Among authors: marschall t. Cell. 2022 May 26;185(11):1986-2005.e26. doi: 10.1016/j.cell.2022.04.017. Epub 2022 May 6. Cell. 2022. PMID: 35525246 Free PMC article.
Characteristics of de novo structural changes in the human genome.
Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium; Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V. Kloosterman WP, et al. Among authors: marschall t. Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16. Genome Res. 2015. PMID: 25883321 Free PMC article.
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium; Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V. Hehir-Kwa JY, et al. Among authors: marschall t. Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989. Nat Commun. 2016. PMID: 27708267 Free PMC article.
Computational pan-genomics: status, promises and challenges.
Computational Pan-Genomics Consortium. Computational Pan-Genomics Consortium. Brief Bioinform. 2018 Jan 1;19(1):118-135. doi: 10.1093/bib/bbw089. Brief Bioinform. 2018. PMID: 27769991 Free PMC article. Review.
Genotyping inversions and tandem duplications.
Ebler J, Schönhuth A, Marschall T. Ebler J, et al. Among authors: marschall t. Bioinformatics. 2017 Dec 15;33(24):4015-4023. doi: 10.1093/bioinformatics/btx020. Bioinformatics. 2017. PMID: 28169394
AVAILABILITY AND IMPLEMENTATION: https://bitbucket.org/jana_ebler/digtyper.git. CONTACT: t.marschall@mpi-inf.mpg.de. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
AVAILABILITY AND IMPLEMENTATION: https://bitbucket.org/jana_ebler/digtyper.git. CONTACT: t.marschall@mpi-inf.mpg.de. SUPPLEMEN …
Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. Chaisson MJP, et al. Among authors: marschall t. Nat Commun. 2019 Apr 16;10(1):1784. doi: 10.1038/s41467-018-08148-z. Nat Commun. 2019. PMID: 30992455 Free PMC article.
Haplotype-aware diplotyping from noisy long reads.
Ebler J, Haukness M, Pesout T, Marschall T, Paten B. Ebler J, et al. Among authors: marschall t. Genome Biol. 2019 Jun 3;20(1):116. doi: 10.1186/s13059-019-1709-0. Genome Biol. 2019. PMID: 31159868 Free PMC article.
131 results