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Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Ebert P, et al. Among authors: serra mari r. Science. 2021 Apr 2;372(6537):eabf7117. doi: 10.1126/science.abf7117. Epub 2021 Feb 25. Science. 2021. PMID: 33632895 Free PMC article.
Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants.
Lin J, Yang X, Kosters W, Xu T, Jia Y, Wang S, Zhu Q, Ryan M, Guo L, Zhang C; Human Genome Structural Variation Consortium; Lee C, Devine SE, Eichler EE, Ye K. Lin J, et al. Genomics Proteomics Bioinformatics. 2022 Feb;20(1):205-218. doi: 10.1016/j.gpb.2021.03.007. Epub 2021 Jul 3. Genomics Proteomics Bioinformatics. 2022. PMID: 34224879 Free PMC article.
Genetic polyploid phasing from low-depth progeny samples.
Schrinner S, Serra Mari R, Finkers R, Arens P, Usadel B, Marschall T, Klau GW. Schrinner S, et al. Among authors: serra mari r. iScience. 2022 May 25;25(6):104461. doi: 10.1016/j.isci.2022.104461. eCollection 2022 Jun 17. iScience. 2022. PMID: 35692633 Free PMC article.