A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Autor: Yayun Qin, Hui Xu, Jingmin Yang, Yiming Wu, Hui Li, Bo Wang, Lijun Liu, Ding Ren, Runhong Xu, Manman Li, Chengcheng Zhang, Jieping Song

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Objective: To demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy type 1 (FSHD1).Methods: Bionano optical mapping was used to identify the D4Z4 structural variation of the genomic DN

Externí odkaz: https://doaj.org/article/c108623b0e604f79b98a72b975d0afb2

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Genome editing reveals that pSCL4 is required for chromosome linearity in Streptomyces clavuligerus

Autor: Andrew J. Collis, Juan Pablo Gomez-Escribano, Kenan A. J. Bozhüyük, Paul Herron, Jason Micklefield, Barrie Wilkinson, Benjamin D. Huckle, Lis Algora Gallardo, Steven G. Kendrew, Mervyn J. Bibb, Nicola A. Crowhurst

Publikováno v: Gomez-Escribano, J P, Algora Gallardo, L, Bozhüyük, K A J, Kendrew, S G, Huckle, B D, Crowhurst, N A, Bibb, M J, Collis, A J, Micklefield, J, Herron, P R & Wilkinson, B 2021, ' Genome editing reveals that pSCL4 is required for chromosome linearity in Streptomyces clavuligerus ', Microbial genomics, vol. 7, no. 11, 000669 . https://doi.org/10.1099/MGEN.0.000669

Streptomyces clavuligerus is an industrially important actinomycete whose genetic manipulation is limited by low transformation and conjugation efficiencies, low levels of recombination of introduced DNA, and difficulty in obtaining consistent sporul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf44edb3f28327a8a9c1d6553fdb4b2
https://www.research.manchester.ac.uk/portal/en/publications/genome-editing-reveals-that-pscl4-is-required-for-chromosome-linearity-in-streptomyces-clavuligerus(37af815e-dc6e-4e8b-850d-a1893497f85d).html

Re-examination of two diatom reference genomes using long-read sequencing

Autor: Bruce A. Curtis, Gina V. Filloramo, Emma Blanche, John M. Archibald

Publikováno v: BMC Genomics
BMC Genomics, Vol 22, Iss 1, Pp 1-25 (2021)

Background The marine diatoms Thalassiosira pseudonana and Phaeodactylum tricornutum are valuable model organisms for exploring the evolution, diversity and ecology of this important algal group. Their reference genomes, published in 2004 and 2008, r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e83ba09faa8280bd5dc35946d7035d90
https://doi.org/10.1186/s12864-021-07666-3

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