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1Academic Journal
Authors: D. I. Zhigalina, O. R. Kanbekova, V. A. Shitov, N. A. Skryabin, Д. И. Жигалина, О. Р. Канбекова, В. А. Шитов В.А., Н. А. Скрябин
Contributors: The study was supported by the Russian Science Foundation grant No. 20-74-00064 (2020-2021)., Исследование поддержано грантом РНФ №20-74-00064 (2020-2021 гг.) «Реконструкция мутационных процессов у эмбрионов человека на преимплантационном этапе развития на основе цифрового кариотипирования единичных клеток бластоцист».
Source: Medical Genetics; Том 23, № 10 (2024); 11-20 ; Медицинская генетика; Том 23, № 10 (2024); 11-20 ; 2073-7998
Subject Terms: транскриптомный анализ, preimplantation genetic screening, IVF, e-karyotyping, transcriptome analysis, преимплантационный генетический скрининг, ЭКО, цифровое кариотипирование
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Relation: https://www.medgen-journal.ru/jour/article/view/2558/1820; Shaw L., Sneddon S.F., Zeef L., et al. Global gene expression profiling of individual human oocytes and embryos demonstrates heterogeneity in early development. Plos One. 2013;8(5):e64192.; Rossant J., Tam P.P. Early human embryonic development: Blastocyst formation to gastrulation. Dev Cell. 2022;57(2):152-165.; Alfarawati S., Fragouli E., Colls P., et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril. 2011;95(2):520-524.; Schoolcraft W.B., Gardner D.K., Lane M., et al. Blastocyst culture and transfer: analysis of results and parameters affecting outcome in two in vitro fertilization programs. Fertil Steril. 1999;72(4):604-609.; Andrews S. FastQC: a quality control tool for high throughput sequence data. 2010. [Electronic resource] Available at: http://www.bioinformatics.babraham.ac.uk/projects/fastqc. Accessed: 20.10.2024.; Ewels P., Magnusson M., Lundin S., et al. MultiQC: summarize analysis results for multiple tools and samples in a single report. Bioinformatics. 2016;32(19):3047-3048.; Dobin A., Davis C.A., Schlesinger F., et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29(1):15-21.; Liao Y., Smyth G.K., Shi W. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics. 2014;30(7):923-930.; Groff A.F., Resetkova N., DiDomenico F., et al. RNA-seq as a tool for evaluating human embryo competence. Genome Res. 2019;29(10):1705-1718.; Love M., Anders S., Huber W. Differential analysis of count data– the DESeq2 package. Genome Biol. 2014;15(550):10-1186.; Zhu A. Statistical methods for sequencing count data and integrative functional genomics. 2019. [Electronic resource] Available at: https://doi.org/10.17615/y2et-dh46. Accessed: 20.10.2024.; Flensburg C., Sargeant T., Oshlack A., et al. SuperFreq: Integrated mutation detection and clonal tracking in cancer. PLoS Comput Biol. 2020;16(2):e1007603.; Malakhova A.A., Grigor’eva E.V., Pavlova S.V., et al. Generation of induced pluripotent stem cell lines ICGi021-A and ICGi022-A from peripheral blood mononuclear cells of two healthy individuals from Siberian population. Stem Cell Res. 2020a;48:101952.; Malakhova A.A., Grigor’eva E.V., Vasilyeva O.Y., et al. Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson’s disease. Stem Cell Res. 2020b;47:101922.; Zhigalina D.I., Malakhova A.A., Vasilyeva O.Y., et al. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson’s disease patient carrying a frameshift mutation p. Lys1013fs and missense mutation p. H1069Q in the ATP7B gene. Stem Cell Res. 2021;57:102556.; Zhang K., Haversat J.M., Mager J. CTR9/PAF1c regulates molecular lineage identity, histone H3K36 trimethylation and genomic imprinting during preimplantation development. Dev Biol. 2013;383(1):15-27.; Genuth N.R., Shi Z., Kunimoto K., et al. A stem cell roadmap of ribosome heterogeneity reveals a function for RPL10A in mesoderm production. Nat Commun. 2022;13(1):5491.; Tranguch S., Chakrabarty A., Guo Y., et al. Maternal pentraxin 3 deficiency compromises implantation in mice. Biol Reprod. 2007;77(3):425-432.; Huang K., Maruyama T., Fan G. The naive state of human pluripotent stem cells: a synthesis of stem cell and preimplantation embryo transcriptome analyses. Cell Stem Cell. 2014;15(4):410-415.; Franasiak J.M., Forman E.J., Hong K.H., et al. Aneuploidy across individual chromosomes at the embryonic level in trophectoderm biopsies: changes with patient age and chromosome structure. J Assist Reprod Genet. 2014;31:1501-1509.
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2Academic Journal
Source: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :3-12
Subject Terms: chromosomal diseases, хромосомные болезни, chromosomal mosaicism, 1. No poverty, анеуплоидия, экстракорпоральное оплодотворение, преимплантационная генетическая диагностика, хромосомный мозаицизм, 3. Good health, преимплантационное генетическое тестирование, преимплантационный генетический скрининг, aneuploidy, in vitro fertilization, preimplantation genetic testing for aneuploidy (PGT-A), preimplantation genetic diagnosis, preimplantation genetic screening
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3Academic Journal
Source: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :47-54
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4Academic Journal
Authors: I. N. Lebedev, И. Н. Лебедев
Source: Medical Genetics; Том 18, № 3 (2019); 3-12 ; Медицинская генетика; Том 18, № 3 (2019); 3-12 ; 2073-7998
Subject Terms: chromosomal mosaicism, преимплантационная генетическая диагностика, преимплантационный генетический скрининг, преимплантационное генетическое тестирование, хромосомные болезни, хромосомный мозаицизм, экстракорпоральное оплодотворение, aneuploidy, in vitro fertilization, preimplantation genetic diagnosis, preimplantation genetic screening, preimplantation genetic testing for aneuploidy (PGT-A), chromosomal diseases
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Availability: https://www.medgen-journal.ru/jour/article/view/672