Zobrazeno 1 - 10
of 737
pro vyhledávání: '"variant analysis"'
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-20 (2024)
Abstract Background High-throughput sequencing (HTS) has become the gold standard approach for variant analysis in cancer research. However, somatic variants may occur at low fractions due to contamination from normal cells or tumor heterogeneity; th
Externí odkaz:
https://doaj.org/article/67b9649418b942f78432ff2c6a322de2
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundHigh heterogeneity is an essential feature of malignant tumors. This study aims to reveal the drivers of hepatocellular carcinoma heterogeneity for prognostic stratification and to guide individualized treatment.MethodsOmics data and clinic
Externí odkaz:
https://doaj.org/article/d4c7272b703a470cae218badeb1815a0
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/b5264567999d47f2a54b977d3d5280c3
Autor:
Camila Mendes, Thereza Loureiro, Darine Villela, Marcelo Imbroinise Bittencourt, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciana Santos Serrao de Castro, Rodrigo Ambrosio Fock, Maria Luisa Tinoco, Henrique Galvão, Cristovam Scapulatempo-Neto, Katia Schiavetti, Andreza A. Senerchia, Maria Helane Costa Gurgel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101100- (2024)
Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we
Externí odkaz:
https://doaj.org/article/950b14b11d1040b4aa4ab142a00a6d70
Influencing TRIP threshold and variant pairing through minor cold and cryo-rolling in bainitic steel
Publikováno v:
In Materialia December 2024 38
Autor:
Katerina Kvapilova, Pavol Misenko, Jan Radvanszky, Ondrej Brzon, Jaroslav Budis, Juraj Gazdarica, Ondrej Pos, Marie Korabecna, Martin Kasny, Tomas Szemes, Petr Kvapil, Jan Paces, Zbynek Kozmik
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
Abstract Background Whole exome sequencing (WES) and whole genome sequencing (WGS) have become standard methods in human clinical diagnostics as well as in population genomics (POPGEN). Blood-derived genomic DNA (gDNA) is routinely used in the clinic
Externí odkaz:
https://doaj.org/article/a0a7b7e5449b4f6383ccc83c0d0fa3f4
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-7 (2024)
Abstract Background The advent of Next-Generation Sequencing (NGS) has catalyzed a paradigm shift in medical genetics, enabling the identification of disease-associated variants. However, the vast quantum of data produced by NGS necessitates a robust
Externí odkaz:
https://doaj.org/article/22741d86c40842f781412b7a987cd661
Autor:
G. Diane Shelton, James R. Mickelson, Steven G. Friedenberg, Jonah N. Cullen, Jaya M. Mehra, Ling T. Guo, Katie M. Minor
Publikováno v:
Animals, Vol 14, Iss 13, p 1946 (2024)
(1) Background: An adult dog was presented to a board-certified veterinary neurologist for evaluation of chronic weakness, exercise intolerance and lactic acidemia. (2) Methods: A mitochondrial myopathy was diagnosed based on the histological and his
Externí odkaz:
https://doaj.org/article/8306b66247034c338b78eaf8bd088e42
Publikováno v:
Journal of Advanced Mechanical Design, Systems, and Manufacturing, Vol 17, Iss 6, Pp JAMDSM0076-JAMDSM0076 (2023)
In a 9-speed transmission, as a key participant of a planetary wheel system, the gear ring will be subjected to elastic deformation as a result of the meshing action, affecting the smoothness of the transmission. Firstly, the time-variant stiffness o
Externí odkaz:
https://doaj.org/article/256b3a52996b4f68aa51510a91df8eda
Autor:
Ya‐Sian Chang, Dy‐San Chao, Chin‐Chun Chung, Yu‐Pao Chou, Chieh‐Min Chang, Chia‐Li Lin, Hou‐Wei Chu, Hon‐Da Chen, Ting‐Yuan Liu, Yu‐Hsuan Juan, Shun‐Jen Chang, Jan‐Gowth Chang
Publikováno v:
Cancer Medicine, Vol 12, Iss 2, Pp 1972-1983 (2023)
Abstract Background Cancer is a major cause of death, and its early identification and intervention have potential for clinical actionability and benefits for human health. The studies using whole‐genome sequencing (WGS) and large samples analysis
Externí odkaz:
https://doaj.org/article/c793003362234c0786af1697d9afd115