Biological Dosimetry - Cytogenetics Findings At Persons Occupationally Exposed To Ionizing Radiation
Biomolecules & Biomedicine, 2006 A large number of physical and chemical agents are capable to course chromosomal aberrations. Ionizing radiation is frequent and well known course of chromosomal aberrations. If deoxyribonucleic acid (DNA) is irradiated before synthesis chromosomal-type
Amra Ćatović, Fikreta Tanacković
doaj +1 more source
The Karyotype Ontology: a computational representation for human cytogenetic patterns [PDF]
arXiv, 2013 The karyotype ontology describes the human chromosome complement as determined cytogenetically, and is designed as an initial step toward the goal of replacing the current system which is based on semantically meaningful strings. This ontology uses a novel, semi-programmatic methodology based around the tawny library to construct many classes rapidly ...
arxiv
Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes [PDF]
, 1993 Colored chromosome staining patterns, termed chromosomal ‘bar codes’ (CBCs), were obtained on human chromosomes by fluorescence in situ hybridization (FISH) with pools of Alu-PCR products from YAC dones containing human DNA inserts ranging from 100 kbp ...
Cremer, Thomas +10 more
core +1 more source
Application of Deep Learning on Predicting Prognosis of Acute Myeloid Leukemia with Cytogenetics, Age, and Mutations [PDF]
arXiv, 2018 We explore how Deep Learning (DL) can be utilized to predict prognosis of acute myeloid leukemia (AML). Out of TCGA (The Cancer Genome Atlas) database, 94 AML cases are used in this study. Input data include age, 10 common cytogenetic and 23 most common mutation results; output is the prognosis (diagnosis to death, DTD). In our DL network, autoencoders
arxiv
Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization [PDF]
, 1990 Chromosomal in situ suppression (CISS)-hybridization of biotinylated phage DNA-library inserts from sorted human chromosomes was used to decorate chromosomes 1 and 7 specifically from pter to qter and to detect structural aberrations of these chromosomes
Cremer, Christoph +4 more
core +1 more source
TP53‐Mutated Myeloid Neoplasms: 2024 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, EarlyView.ABSTRACT Alterations in the tumor suppressor gene TP53 are common in human cancers and are associated with an aggressive nature. Approximately 8%–12% of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) harbor TP53 mutations (TP53mut) and present immense challenges due to inherent chemoresistance and poor outcomes.
Mithun Vinod Shah +2 more
wiley +1 more source
Molecular Cytogenetics, 2019 Head and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage.
Ilda Patrícia Ribeiro +2 more
doaj +1 more source
Alternative statistical methods for cytogenetic radiation biological dosimetry [PDF]
arXiv, 2014 The paper presents alternative statistical methods for biological dosimetry, such as the Bayesian and Monte Carlo method. The classical Gaussian and robust Bayesian fit algorithms for the linear, linear-quadratic as well as saturated and critical calibration curves are described. The Bayesian model selection algorithm for those curves is also presented.
arxiv
A Critical Review of the Impact of Candidate Copy Number Variants on Autism Spectrum Disorders [PDF]
arXiv, 2023 Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD) that is caused by genetic, epigenetic, and environmental factors. Recent advances in genomic analysis have uncovered numerous candidate genes with common and/or rare mutations that increase susceptibility to ASD.
arxiv
American Journal of Hematology, EarlyView.ABSTRACT With the recent publication of new classification systems of hematopoietic neoplasms, understanding how recognition of disease entities has occurred over time and the subsequent development of formal disease classifications is of importance. This review focuses on the early recognition of myeloid disorders, especially chronic myeloid disorders,
Daniel A. Arber, Attilio Orazi
wiley +1 more source