Results 1 to 10 of about 120,383 (385)

Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

Ultrasound in Obstetrics and Gynecology, 2015
To compare the performance of traditional G‐banding karyotyping with that of copy number variation sequencing (CNV‐Seq) for detection of chromosomal abnormalities associated with miscarriage.
S. Liu, L. Song, D. Cram, L. Xiong, K. Wang, R. Wu, J. Liu, K. Deng, B. Jia, Mei Zhong, F. Yang   +10 more
semanticscholar   +1 more source

Acute non-lymphoblastic leukemia: characteristics of cytogenetic anomalies and their influence on clinical course of the disease

Онкогематология, 2022
Cytogenetic changes in bone marrow cells and their influence on clinical course of the disease were analyzed in 106 patients with acute non-lymphoblastic leukemia (ANLL).
A. M. Vakulchuk, N. N. Tretyak, S. Ye. Kalinina, A. I. Koval, T. P. Perekhrestenko   +4 more
doaj   +1 more source

Varifocal-Net: A Chromosome Classification Approach using Deep Convolutional Networks [PDF]

, 2018
Chromosome classification is critical for karyotyping in abnormality diagnosis. To expedite the diagnosis, we present a novel method named Varifocal-Net for simultaneous classification of chromosome's type and polarity using deep convolutional networks. The approach consists of one global-scale network (G-Net) and one local-scale network (L-Net).
arxiv   +1 more source

Karyotype AI for Precision Oncology [PDF]

arXiv, 2022
We present a machine learning method capable of accurately detecting chromosome abnormalities that cause blood cancers directly from microscope images of the metaphase stage of cell division. The pipeline is built on a series of fine-tuned Vision Transformers.
arxiv  

Sequential karyotyping in Burkitt lymphoma reveals a linear clonal evolution with increase in karyotype complexity and a high frequency of recurrent secondary aberrations

British Journal of Haematology, 2015
Typical Burkitt lymphoma is characterized by an IG‐MYC translocation and overall low genomic complexity. Clinically, Burkitt lymphoma has a favourable prognosis with very few relapses.
S. Aukema, Laura Theil, M. Rohde, Benedikt Bauer, J. Bradtke, B. Burkhardt, Bettina R. Bonn, A. Claviez, S. Gattenlöhner, O. Makarova, I. Nagel, I. Oschlies, C. Pott, M. Szczepanowski, A. Traulsen, P. Kluin, W. Klapper, R. Siebert, E. M. Murga Penas   +18 more
semanticscholar   +1 more source

Masked conditional variational autoencoders for chromosome straightening [PDF]

arXiv, 2023
Karyotyping is of importance for detecting chromosomal aberrations in human disease. However, chromosomes easily appear curved in microscopic images, which prevents cytogeneticists from analyzing chromosome types. To address this issue, we propose a framework for chromosome straightening, which comprises a preliminary processing algorithm and a ...
arxiv  

Gene expression modelling across multiple cell-lines with MapReduce [PDF]

BMC Bioinformatics 2016 17:446, 2015
With the wealth of high-throughput sequencing data generated by recent large-scale consortia, predictive gene expression modelling has become an important tool for integrative analysis of transcriptomic and epigenetic data. However, sequencing data-sets are characteristically large, and previously modelling frameworks are typically inefficient and ...
arxiv   +1 more source

Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia.

American Journal of Clinical Pathology, 2015
OBJECTIVES Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities.
R. He, A. Wiktor, C. Hanson, R. Ketterling, Paul J. Kurtin, D. V. Van Dyke, M. Litzow, M. Howard, K. Reichard   +8 more
semanticscholar   +1 more source

Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.

BioTechniques, 2015
Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores.
T. Potapova, J. Unruh, A. Box, W. Bradford, C. Seidel, Brian D. Slaughter, Shamilene Sivagnanam, Yuping Wu, Rong Li   +8 more
semanticscholar   +1 more source

Interactive Karyotyping Training [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj