Results 221 to 230 of about 23,313,531 (341)

gnSPADE: Incorporating Gene Network Structures Enhances Reference‐Free Deconvolution in Spatial Transcriptomics

Advanced Intelligent Systems, EarlyView.
gnSPADE integrates gene‐network structures into a probabilistic topic modeling framework to achieve reference‐free cell‐type deconvolution in spatial transcriptomics. By embedding gene connectivity within the generative process, gnSPADE enhances biological interpretability and accuracy across simulated and real datasets, revealing spatial organization ...
Aoqi Xie, Yuehua Cui
wiley   +1 more source

Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities. [PDF]

Int J Gen Med
Chen X, Lan L, Wu H, Zeng M, Zheng Z, Zhong Q, Lai F, Hu Y.   +7 more
europepmc   +1 more source

Mepylome: A Point‐of‐Care Tumor Diagnostic Toolkit for Tumor DNA Methylation and Copy Number Analysis

Advanced Intelligent Systems, EarlyView.
DNA methylation and chromosomal copy number profiling have recently become essential for tumor diagnostics. The open‐source tool Mepylome enables this task in clinical routine. It combines several machine learning strategies and allows users to interactively examine respective data through an intuitive graphical interface. Running up to 65 times faster
Jon Brugger, Claus Hultschig, Daniel Baumhoer, Baptiste Ameline, Benjamin Maciej Freyter, Stephan Frank, Jürgen Hench   +6 more
wiley   +1 more source

Microarray Image Analysis Using Genetic Algorithm

, 2016
Bolem Sivalakshmi, N. Naga Malleswara Rao   +1 more
openalex   +1 more source

Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors

Proceedings of the National Academy of Sciences of the United States of America, 2002
J. Pollack, T. Sørlie, C. Perou, Christian A. Rees, S. Jeffrey, P. Lønning, R. Tibshirani, D. Botstein, A. Børresen-Dale, P. Brown   +9 more
semanticscholar   +1 more source

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction. [PDF]

BMC Pregnancy Childbirth
Li P, Wu W, Zhang X, Li Y, Liu M, Wang Y, Man D, Wang F.   +7 more
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Genome-wide association mapping for heat shock tolerance in Mercenaria mercenaria through SNP microarray analysis. [PDF]

BMC Genomics
Yang H, Grouzdev D, Wang Z, Yee JC, Zeng Y, Sturmer L, Allam B.   +6 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Bayesian and Empirical Bayes Approaches to Power Law Process and Microarray Analysis

, 2004
Zhao Chen
openalex   +1 more source