Results 281 to 290 of about 124,374 (336)

Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies. [PDF]

Int J Mol Sci
Ballesta-Alcaraz L, Bernal M, Vilchez JR, Palacios JA, Jiménez P, Garrido P, Gutiérrez-Bautista JF, Ruiz-Cabello F.   +7 more
europepmc   +1 more source

Comparative study of the karyotypes of two Vigna sub species

, 2006
O. A. Adetula
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Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
europepmc   +1 more source

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Traditional and deep‐based techniques for end‐to‐end automated karyotyping: A review

Expert Syst. J. Knowl. Eng., 2021
In the field of cytogenetics, chromosome image analysis or karyotyping from metaphase images plays an imperative role in the diagnosis, prognosis and treatment assessment of different genetic disorders and cancers. This paper is a comprehensive review on
Remya Remani Sathyan, Gopakumar Chandrasekhara Menon, Hariharan S, R. Thampi, Jude Hemanth Duraisamy   +4 more
semanticscholar   +1 more source

Karyotyping

Current Protocols in Human Genetics, 1998
AbstractRelevant portions of the new International System for Human Cytogenetic Nomenclature (ISCN 1995) have been reproduced in this appendix (with permission from Karger, the original publisher). The new rules supersede all previous rules and include guidelines for cancer cytogenetics as well as new recommendations for nomenclature when in situ ...
R R, Schreck, C, Distèche
openaire   +2 more sources

Digital karyotyping

Nature Protocols, 2007
Detection of copy number variation in the human genome is important for identifying naturally occurring copy number polymorphisms as well as alterations that underlie various human diseases, including cancer. Digital karyotyping uses short sequence tags derived from specific genomic loci to provide a quantitative and high-resolution view of copy number
Rebecca J, Leary, Jordan, Cummins, Tian-Li, Wang, Victor E, Velculescu   +3 more
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End-To-End Chromosome Karyotyping with Data Augmentation Using GAN

International Conference on Information Photonics, 2018
Classifying human chromosomes from input cell images, i.e., karyotyping, requires domain expertise and quantity of manual effort to perform. In this paper, we propose an end-to-end chromosome karyotyping method, which can automatically detect, segment ...
Yirui Wu, Yisheng Yue, Xiao Tan, Wei Wang, Tong Lu   +4 more
semanticscholar   +1 more source

Mammalian karyotype evolution

Nature Reviews Genetics, 2007
The chromosome complements (karyotypes) of animals display a great diversity in number and morphology. Against this background, the genomes of all species are remarkably conserved, not only in transcribed sequences, but also in some chromosome-specific non-coding sequences and in gene order.
Malcolm A, Ferguson-Smith, Vladimir, Trifonov   +1 more
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Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations

Fertility and Sterility, 2006
To assesses chromosomal aberrations in the abortus in recurrent miscarriage, in the presence of parental chromosomal aberrations.Retrospective comparative cohort study.Tertiary referral unit in university hospital.One thousand one hundred eight patients with 3-16 miscarriages before 20 weeks gestation; 113 patients with and 995 without chromosomal ...
Howard, Carp, Esther, Guetta, Haya, Dorf, David, Soriano, Gad, Barkai, Eyal, Schiff   +5 more
openaire   +2 more sources