Results 71 to 80 of about 88,848 (322)

Reconstructing pedigrees: a stochastic perspective [PDF]

arXiv, 2007
A pedigree is a directed graph that describes how individuals are related through ancestry in a sexually-reproducing population. In this paper we explore the question of whether one can reconstruct a pedigree by just observing sequence data for present day individuals.
arxiv  

Classification of acute myeloid leukemia based on multi‐omics and prognosis prediction value

Molecular Oncology, EarlyView.
The Unsupervised AML Multi‐Omics Classification System (UAMOCS) integrates genomic, methylation, and transcriptomic data to categorize AML patients into three subtypes (UAMOCS1‐3). This classification reveals clinical relevance, highlighting immune and chromosomal characteristics, prognosis, and therapeutic vulnerabilities.
Yang Song, Zhe Wang, Guangji Zhang, Jiangxue Hou, Kaiqi Liu, Shuning Wei, Yan Li, Chunlin Zhou, Dong Lin, Min Wang, Hui Wei, Jianxiang Wang, Tao Cheng, Yingchang Mi   +13 more
wiley   +1 more source

Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients

Cancer Medicine, 2019
We investigated the prevalence of germline BRCA mutations in a population‐based cohort of Austrian women diagnosed with ovarian cancer and its association with family history of cancer.
Christian F. Singer, Yen Y. Tan, Daniela Muhr, Christine Rappaport, Daphne Gschwantler‐Kaulich, Christoph Grimm, Stephan Polterauer, Georg Pfeiler, Andreas Berger, Muy‐Kheng M. Tea   +9 more
doaj   +1 more source

IPED2: Inheritance Path based Pedigree Reconstruction Algorithm for Complicated Pedigrees [PDF]

arXiv, 2014
Reconstruction of family trees, or pedigree reconstruction, for a group of individuals is a fundamental problem in genetics. The problem is known to be NP-hard even for datasets known to only contain siblings. Some recent methods have been developed to accurately and efficiently reconstruct pedigrees.
arxiv  

Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi, Eric Feng, Nicholas R. Rydzewski, Amy K. Taylor, Jamie M. Sperger, Yue Shi, Kyle T. Helzer, Matthew L. Bootsma, Viridiana Carreno, Alex H. Chang, Luke A. Nunamaker, Grace C. Blitzer, Tianfu Andy Shang, Aishwarya Subramanian, Anders Bjartell, Andreas Josefsson, Pernilla Wikström, Emily Feng, Manish Kohli, Rendong Yang, Scott M. Dehm, Eric J. Small, Rahul Aggarwal, David A. Quigley, Joshua M. Lang, Shuang G. Zhao, Martin Sjöström   +26 more
wiley   +1 more source

Non-Identifiable Pedigrees and a Bayesian Solution [PDF]

arXiv, 2016
Some methods aim to correct or test for relationships or to reconstruct the pedigree, or family tree. We show that these methods cannot resolve ties for correct relationships due to identifiability of the pedigree likelihood which is the probability of inheriting the data under the pedigree model.
arxiv  

Efficient Reconstruction of Stochastic Pedigrees [PDF]

arXiv, 2020
We introduce a new algorithm called {\sc Rec-Gen} for reconstructing the genealogy or \textit{pedigree} of an extant population purely from its genetic data. We justify our approach by giving a mathematical proof of the effectiveness of {\sc Rec-Gen} when applied to pedigrees from an idealized generative model that replicates some of the features of ...
arxiv  

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

Molecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu, Jianchao Wang, Fuqing Chen, Xuefeng Wang, Bin Lan, Ruyi Fu, Hong Wen, Fangfang Chen, Wei Hong, Tian‐Yu Tang, Ying He, Gang Chen, Jianyin Zhou, Hai‐Long Piao, Di Chen, Shu‐Yong Lin   +15 more
wiley   +1 more source

The odds and implications of coinheritance of hemophilia A and B

Research and Practice in Thrombosis and Haemostasis, 2020
We report 2 patients with coinheritance of the X‐linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features, and genotyping.
Corinne Karch, Diane Masser‐Frye, Jacqueline Limjoco, Sarah E. Ryan, Shelley N. Fletcher, Kevin D. Corbett, Jill M. Johnsen, Courtney D. Thornburg   +7 more
doaj   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source