Results 101 to 110 of about 287,824 (375)

PedWiz: A web-based tool for pedigree informatics

Frontiers in Genetics, 2013
A novel web-based tool PedWiz that pipelines the informatics process for pedigree data is introduced. PedWiz is designed to assist researchers in the analysis of pedigree data.
Yeunjoo E. Song, Robert C Elston
doaj   +1 more source

ANALYSIS OF PEDIGREE LONG-LIVING PEDIGREES

, 2022
The study was conducted in 2022 and examines the hereditary predisposition to longevity by analyzing the pedigrees of 300 long-lived people who lived throughout their lives in the Carpathians (Ivano-Frankivsk region, Ukraine). The clinical and genealogical method is carried out in two stages.
Kozovyi, V., Shukaylyk, O., Dovhanych, N., Kozovyi, R.   +3 more
openaire   +1 more source

Methylation biomarkers can distinguish pleural mesothelioma from healthy pleura and other pleural pathologies

Molecular Oncology, EarlyView.
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck, Nele De Meulenaere, Thomas Vanpoucke, Joe Ibrahim, Dieter Peeters, Suresh Krishan Yogeswaran, Wen Wen, Paul Van Schil, Jeroen M. H. Hendriks, Jo Raskin, Jan van Meerbeeck, Guy Van Camp, Ken Op de Beeck   +12 more
wiley   +1 more source

A case of arrhythmic cardiomyopathy caused by rare multiple gene mutations

Frontiers in Cardiovascular Medicine
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterized by a high risk of ventricular tachycardia and sudden cardiac death, often involving the right ventricle or both ventricles, with the initial onset usually in adolescence or ...
Kaiqin Liang, Hong Wang, Minfang Wu, Meng Cui, Kaiyou Liu, Mintao Gan, Wengong Cheng, Aiqiong Huang   +7 more
doaj   +1 more source

The quest for a donor: probability based methods offer help [PDF]

, 2005
When a patient in need of a stem cell transplant has no compatible donor within his or her closest family, and no matched unrelated donor can be found, a remaining option is to search within the patient’s extended family. This situation often arises when
Bosnes, V., Braaten, O., Cowell, R., Egeland, T., Mostad, P. F.   +4 more
core  

[A pedigree study of laryngo-onycho-cutaneous syndrome with a novel mutation on LAMA3 gene]. [PDF]

, 2022
Cuilian Li, Ling Liu, Jing Ma, Jinyan Zu, Xiuli Ma, Meihua Sun, Hong Shu, Jun Zhou   +7 more
openalex   +1 more source

Efficient Genome-Wide Sequencing and Low-Coverage Pedigree Analysis from Noninvasively Collected Samples

Genetics, 2015
Research on the genetics of natural populations was revolutionized in the 1990s by methods for genotyping noninvasively collected samples. However, these methods have remained largely unchanged for the past 20 years and lag far behind the genomics era ...
Noah Snyder-Mackler, William H. Majoros, M. L. Yuan, Amanda O. Shaver, Jacob B. Gordon, G. H. Kopp, S. A. Schlebusch, J. Wall, S. Alberts, Sayan Mukherjee, Xiang Zhou, Jenny Tung   +11 more
semanticscholar   +1 more source

Strength through diversity: how cancers thrive when clones cooperate

Molecular Oncology, EarlyView.
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken, Maartje Witsen, Emile E. Voest, Krijn K. Dijkstra   +3 more
wiley   +1 more source

Evaluation and development of animal breeding in Ireland [PDF]

, 2008
End of project reportThe primary objectives of this study were: 1) to annually evaluate the pertinence of the Irish dairy cattle breeding index, the Economic Breeding Index (EBI) and where necessary modify, 2) to evaluate the potential of do-it-yourself ...
Berry, Donagh, McParland, Sinead, Shalloo, Laurence   +2 more
core  

Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7 [PDF]

, 2023
Hongmei Guo, Zhengxi Deng, Qiuhong Xu, Zhong Wang, Xiumei Zeng, Xiaochun Hong, Qingming Wang, Yan Sun, Haiming Yuan   +8 more
openalex   +1 more source