Search Results - "BMC medical genomics"

Convolutional neural network models for cancer type prediction based on gene expression by Mostavi, Milad, Chiu, Yu-Chiao, Huang, Yufei, Chen, Yidong

“…Precise prediction of cancer types is vital for cancer diagnosis and therapy. Through a predictive model, important cancer marker genes can be inferred…”
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Predicting drug response of tumors from integrated genomic profiles by deep neural networks by Chiu, Yu-Chiao, Chen, Hung-I Harry, Zhang, Tinghe, Zhang, Songyao, Gorthi, Aparna, Wang, Li-Ju, Huang, Yufei, Chen, Yidong

“…The study of high-throughput genomic profiles from a pharmacogenomics viewpoint has provided unprecedented insights into the oncogenic features modulating drug…”
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From big data analysis to personalized medicine for all: challenges and opportunities by Alyass, Akram, Turcotte, Michelle, Meyre, David

“…Recent advances in high-throughput technologies have led to the emergence of systems biology as a holistic science to achieve more precise modeling of complex…”
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Development and verification of the PAM50-based Prosigna breast cancer gene signature assay by Wallden, Brett, Storhoff, James, Nielsen, Torsten, Dowidar, Naeem, Schaper, Carl, Ferree, Sean, Liu, Shuzhen, Leung, Samuel, Geiss, Gary, Snider, Jacqueline, Vickery, Tammi, Davies, Sherri R, Mardis, Elaine R, Gnant, Michael, Sestak, Ivana, Ellis, Matthew J, Perou, Charles M, Bernard, Philip S, Parker, Joel S

“…The four intrinsic subtypes of breast cancer, defined by differential expression of 50 genes (PAM50), have been shown to be predictive of risk of recurrence…”
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Logistic regression model training based on the approximate homomorphic encryption by Kim, Andrey, Song, Yongsoo, Kim, Miran, Lee, Keewoo, Cheon, Jung Hee

“…Security concerns have been raised since big data became a prominent tool in data analysis. For instance, many machine learning algorithms aim to generate…”
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DNA hypermethylation associated with upregulated gene expression in prostate cancer demonstrates the diversity of epigenetic regulation by Rauluseviciute, Ieva, Drabløs, Finn, Rye, Morten Beck

“…Prostate cancer (PCa) has the highest incidence rates of cancers in men in western countries. Unlike several other types of cancer, PCa has few genetic…”
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Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation by Heydt, Carina, Wölwer, Christina B, Velazquez Camacho, Oscar, Wagener-Ryczek, Svenja, Pappesch, Roberto, Siemanowski, Janna, Rehker, Jan, Haller, Florian, Agaimy, Abbas, Worm, Karl, Herold, Thomas, Pfarr, Nicole, Weichert, Wilko, Kirchner, Thomas, Jung, Andreas, Kumbrink, Jörg, Goering, Wolfgang, Esposito, Irene, Buettner, Reinhard, Hillmer, Axel M, Merkelbach-Bruse, Sabine

“…Gene fusions represent promising targets for cancer therapy in lung cancer. Reliable detection of multiple gene fusions is therefore essential. Five…”
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Placental microRNAs in pregnancies with early onset intrauterine growth restriction and preeclampsia: potential impact on gene expression and pathophysiology by Awamleh, Zain, Gloor, Gregory B, Han, Victor K M

“…A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy…”
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Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease by Winkler, Thomas W, Grassmann, Felix, Brandl, Caroline, Kiel, Christina, Günther, Felix, Strunz, Tobias, Weidner, Lorraine, Zimmermann, Martina E, Korb, Christina A, Poplawski, Alicia, Schuster, Alexander K, Müller-Nurasyid, Martina, Peters, Annette, Rauscher, Franziska G, Elze, Tobias, Horn, Katrin, Scholz, Markus, Cañadas-Garre, Marisa, McKnight, Amy Jayne, Quinn, Nicola, Hogg, Ruth E, Küchenhoff, Helmut, Heid, Iris M, Stark, Klaus J, Weber, Bernhard H F

“…Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been…”
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The IGNITE network: a model for genomic medicine implementation and research by Weitzel, Kristin Wiisanen, Alexander, Madeline, Bernhardt, Barbara A, Calman, Neil, Carey, David J, Cavallari, Larisa H, Field, Julie R, Hauser, Diane, Junkins, Heather A, Levin, Phillip A, Levy, Kenneth, Madden, Ebony B, Manolio, Teri A, Odgis, Jacqueline, Orlando, Lori A, Pyeritz, Reed, Wu, R Ryanne, Shuldiner, Alan R, Bottinger, Erwin P, Denny, Joshua C, Dexter, Paul R, Flockhart, David A, Horowitz, Carol R, Johnson, Julie A, Kimmel, Stephen E, Levy, Mia A, Pollin, Toni I, Ginsburg, Geoffrey S

“…Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family…”
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Logistic regression over encrypted data from fully homomorphic encryption by Chen, Hao, Gilad-Bachrach, Ran, Han, Kyoohyung, Huang, Zhicong, Jalali, Amir, Laine, Kim, Lauter, Kristin

“…Background One of the tasks in the 2017 iDASH secure genome analysis competition was to enable training of logistic regression models over encrypted genomic…”
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A random forest based biomarker discovery and power analysis framework for diagnostics research by Acharjee, Animesh, Larkman, Joseph, Xu, Yuanwei, Cardoso, Victor Roth, Gkoutos, Georgios V

“…Biomarker identification is one of the major and important goal of functional genomics and translational medicine studies. Large scale -omics data are…”
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Molecular genetics of human primary microcephaly: an overview by Faheem, Muhammad, Naseer, Muhammad Imran, Rasool, Mahmood, Chaudhary, Adeel G, Kumosani, Taha A, Ilyas, Asad Muhammad, Pushparaj, Peter, Ahmed, Farid, Algahtani, Hussain A, Al-Qahtani, Mohammad H, Saleh Jamal, Hasan

“…Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive…”
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Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing by Wong, Stephen Q, Li, Jason, Tan, Angela Y-C, Vedururu, Ravikiran, Pang, Jia-Min B, Do, Hongdo, Ellul, Jason, Doig, Ken, Bell, Anthony, MacArthur, Grant A, Fox, Stephen B, Thomas, David M, Fellowes, Andrew, Parisot, John P, Dobrovic, Alexander

“…Clinical specimens undergoing diagnostic molecular pathology testing are fixed in formalin due to the necessity for detailed morphological assessment. However,…”
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Deep learning-based cancer survival prognosis from RNA-seq data: approaches and evaluations by Huang, Zhi, Johnson, Travis S, Han, Zhi, Helm, Bryan, Cao, Sha, Zhang, Chi, Salama, Paul, Rizkalla, Maher, Yu, Christina Y, Cheng, Jun, Xiang, Shunian, Zhan, Xiaohui, Zhang, Jie, Huang, Kun

“…Recent advances in kernel-based Deep Learning models have introduced a new era in medical research. Originally designed for pattern recognition and image…”
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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing by Cheng, Donavan T, Prasad, Meera, Chekaluk, Yvonne, Benayed, Ryma, Sadowska, Justyna, Zehir, Ahmet, Syed, Aijazuddin, Wang, Yan Elsa, Somar, Joshua, Li, Yirong, Yelskaya, Zarina, Wong, Donna, Robson, Mark E, Offit, Kenneth, Berger, Michael F, Nafa, Khedoudja, Ladanyi, Marc, Zhang, Liying

“…The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer…”
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Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes by Castro, Andrea, Ozturk, Kivilcim, Pyke, Rachel Marty, Xian, Su, Zanetti, Maurizio, Carter, Hannah

“…The major histocompatibility complex class I (MHC-I) molecule is a protein complex that displays intracellular peptides to T cells, allowing the immune system…”
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Associations of circulating plasma microRNAs with age, body mass index and sex in a population-based study by Ameling, Sabine, Kacprowski, Tim, Chilukoti, Ravi Kumar, Malsch, Carolin, Liebscher, Volkmar, Suhre, Karsten, Pietzner, Maik, Friedrich, Nele, Homuth, Georg, Hammer, Elke, Völker, Uwe

“…Non-cellular blood circulating microRNAs (plasma miRNAs) represent a promising source for the development of prognostic and diagnostic tools owing to their…”
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Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics by Catic, Aida, Gurbeta, Lejla, Kurtovic-Kozaric, Amina, Mehmedbasic, Senad, Badnjevic, Almir

“…The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more…”
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The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies by McCarty, Catherine A, Chisholm, Rex L, Chute, Christopher G, Kullo, Iftikhar J, Jarvik, Gail P, Larson, Eric B, Li, Rongling, Masys, Daniel R, Ritchie, Marylyn D, Roden, Dan M, Struewing, Jeffery P, Wolf, Wendy A

“…The eMERGE (electronic MEdical Records and GEnomics) Network is an NHGRI-supported consortium of five institutions to explore the utility of DNA repositories…”
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