Results 51 to 60 of about 77,988 (331)

Karyotype AI for Precision Oncology [PDF]

open access: yesarXiv, 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  

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

open access: yesBMC 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

Current and Future Cornea Chip Models for Advancing Ophthalmic Research and Therapeutics

open access: yesAdvanced Biology, EarlyView.
This review analyzes cornea chip technology as an innovative solution to corneal blindness and tissue scarcity. The examination encompasses recent developments in biomaterial design and fabrication methods replicating corneal architecture, highlighting applications in drug screening and disease modeling while addressing key challenges in mimicking ...
Minju Kim   +3 more
wiley   +1 more source

Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side‐by‐side comparison in karyotypically normal cells

open access: yesGenes, Chromosomes and Cancer, Volume 62, Issue 2, Page 93-100, February 2023., 2023
Abstract Chromosomal instability is a common feature in malignant tumors. Previous studies have indicated that inactivation of the classical tumor suppressor genes RB1, CDKN2A, and TP53 may contribute to chromosomal aberrations in cancer by disrupting different aspects of the cell cycle and DNA damage checkpoint machinery.
Natalie Andersson   +6 more
wiley   +1 more source

Chromosomes of the bowhead whale (Balaena mysticetus linnaeus) [PDF]

open access: yes, 1979
Thesis (M.S.) University of Alaska Fairbanks, 1979The somatic chromosomes of the bowhead whale, Balaena mysticetus, are described for the first time using homogeneous staining and trypsin G-banding.
Jarrell, Gordon Hamilton
core  

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

open access: yes, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko   +5 more
core   +1 more source

Karyotyping Mouse Cells [PDF]

open access: yesCold Spring Harbor Protocols, 2008
INTRODUCTIONThe majority of mouse chromosome preparations for banding are now made by air-drying and, in essence, require the production of a cell suspension as a starting point. Some samples such as blood cultures, ascitic fluids, or cells growing in suspension will already be in suspension; others, such as bone marrow, solid tumors, or cells growing ...
Kristina Vintersten   +3 more
openaire   +3 more sources

Masked conditional variational autoencoders for chromosome straightening [PDF]

open access: yesarXiv, 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  

A 3D Genome Atlas of Genetic Variants and Their Pathological Effects in Cancer

open access: yesAdvanced Science, EarlyView.
The hierarchical organization of the eukaryotic genome is vital for nuclear function, and disruptions from genetic mutations can alter this 3D architecture. Cataloging thousands of interchromosomal translocations, structural variants, and single nucleotide polymorphisms, their impact on 3D genome organization is revealed. The scoring algorithm, 3DFunc,
Li Tang   +6 more
wiley   +1 more source

A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics

open access: yesGenes, Chromosomes and Cancer, Volume 62, Issue 3, Page 167-170, March 2023., 2023
Abstract Myxoid liposarcoma (MLS) is molecularly characterized by fusions involving the DDIT3 gene in chromosome band 12q13; the fusion partner is FUS in band 16p11 in 90–95% of the cases and EWSR1 in band 22q12 in the remaining 5–10%. Hence, molecular studies, often fluorescence in situ hybridization (FISH) for DDIT3 rearrangement, are useful for ...
Sebastian Ibstedt   +3 more
wiley   +1 more source

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