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Maryam Ghareghani
Researcher at Max Planck Society
Publications - 7
Citations - 513
Maryam Ghareghani is an academic researcher from Max Planck Society. The author has contributed to research in topics: Sequence assembly & Structural variation. The author has an hindex of 6, co-authored 7 publications receiving 186 citations. Previous affiliations of Maryam Ghareghani include University of Düsseldorf & Saarland University.
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Journal ArticleDOI
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Peter Ebert,Peter A. Audano,Qihui Zhu,Bernardo Rodriguez-Martin,David Porubsky,Marc Jan Bonder,Marc Jan Bonder,Arvis Sulovari,Jana Ebler,Weichen Zhou,Rebecca Serra Mari,Feyza Yilmaz,Xuefang Zhao,Xuefang Zhao,PingHsun Hsieh,Joyce V. Lee,Sushant Kumar,Jiadong Lin,Tobias Rausch,Yu Chen,Jingwen Ren,Martin Santamarina,Wolfram Höps,Hufsah Ashraf,Nelson T. Chuang,Xiaofei Yang,Katherine M. Munson,Alexandra P. Lewis,Susan Fairley,Luke J. Tallon,Wayne E. Clarke,Anna O. Basile,Marta Byrska-Bishop,André Corvelo,Uday S. Evani,Tsung Yu Lu,Mark Chaisson,Junjie Chen,Chong Li,Harrison Brand,Harrison Brand,Aaron M. Wenger,Maryam Ghareghani,Maryam Ghareghani,Maryam Ghareghani,William T. Harvey,Benjamin Raeder,Patrick Hasenfeld,Allison A. Regier,Haley J. Abel,Ira M. Hall,Paul Flicek,Oliver Stegle,Oliver Stegle,Mark Gerstein,Jose M. C. Tubio,Zepeng Mu,Yang I. Li,Xinghua Shi,Alex Hastie,Kai Ye,Kai Ye,Zechen Chong,Ashley D. Sanders,Michael C. Zody,Michael E. Talkowski,Michael E. Talkowski,Ryan E. Mills,Scott E. Devine,Charles Lee,Charles Lee,Jan O. Korbel,Tobias Marschall,Evan E. Eichler +73 more
TL;DR: In this article, the authors present 64 assembled haplotypes from 32 diverse human genomes, which integrate all forms of genetic variation, even across complex loci, and identify 107,590 structural variants (SVs), of which 68% were not discovered with short-read sequencing.
Journal ArticleDOI
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
David Porubsky,Peter Ebert,Peter A. Audano,Mitchell R. Vollger,William T. Harvey,Pierre Marijon,Jana Ebler,Katherine M. Munson,Melanie Sorensen,Arvis Sulovari,Marina Haukness,Maryam Ghareghani,Maryam Ghareghani,Peter M. Lansdorp,Peter M. Lansdorp,Benedict Paten,Scott E. Devine,Ashley D. Sanders,Charles Lee,Charles Lee,Mark Chaisson,Jan O. Korbel,Evan E. Eichler,Tobias Marschall +23 more
TL;DR: A reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing with continuous long-read or high-fidelity sequencing data is described.
Journal ArticleDOI
Single-cell analysis of structural variations and complex rearrangements with tri-channel processing
Ashley D. Sanders,Sascha Meiers,Maryam Ghareghani,Maryam Ghareghani,David Porubsky,David Porubsky,Hyobin Jeong,M. Alexandra C. C. van Vliet,Tobias Rausch,Paulina Richter-Pechanska,Paulina Richter-Pechanska,Joachim B. Kunz,Joachim B. Kunz,Silvia Jenni,Davide Bolognini,Gabriel M. C. Longo,Benjamin Raeder,Venla Kinanen,Juergen Zimmermann,Vladimir Benes,Martin Schrappe,Balca R. Mardin,Andreas E. Kulozik,Andreas E. Kulozik,Beat Bornhauser,Jean-Pierre Bourquin,Tobias Marschall,Tobias Marschall,Jan O. Korbel,Jan O. Korbel +29 more
TL;DR: Advancing current methods can directly measure SV mutational processes in individual cells, such as breakage–fusion–bridge cycles, facilitating studies of clonal evolution, genetic mosaicism and SV formation mechanisms, which could improve disease classification for precision medicine.
Posted ContentDOI
A fully phased accurate assembly of an individual human genome
David Porubsky,P. Ebert,Peter A. Audano,Mitchell R. Vollger,William T. Harvey,Katherine M. Munson,Melanie Sorensen,Arvis Sulovari,Marina Haukness,Maryam Ghareghani,Maryam Ghareghani,Peter M. Lansdorp,Peter M. Lansdorp,Benedict Paten,Scott E. Devine,Ashley D. Sanders,Charles Lee,Mark Chaisson,Jan O. Korbel,Evan E. Eichler,Evan E. Eichler,Tobias Marschall,Tobias Marschall +22 more
TL;DR: This work leverage the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing and combine them with high-fidelity (HiFi) long sequencing reads3, in a novel reference-free workflow for diploid de novo genome assembly.
Journal ArticleDOI
Strand-seq enables reliable separation of long reads by chromosome via expectation maximization
Maryam Ghareghani,Maryam Ghareghani,David Porubskỳ,David Porubskỳ,Ashley D. Sanders,Sascha Meiers,Evan E. Eichler,Jan O. Korbel,Tobias Marschall,Tobias Marschall +9 more
TL;DR: SaaRclust is the first approach for the in silico separation of long reads by chromosome prior to assembly and allows to assess the amount of uncertainty inherent to sparse Strand‐seq data on the level of individual reads.