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Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Baldan, Federica, Demori, Eliana, Gnan, Chiara, Passon, Nadia, Damante, Giuseppe, Mio, Catia, Allegri, Lorenzo, Morgan, Anna, Girotto, Giorgia, De Paoli, Federica, Limongelli, Ivan, Zucca, Susanna, Faletra, Flavio
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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A pilot precision medicine trial for children with diffuse intrinsic pontine glioma—PNOC003: A report from the Pacific Pediatric Neuro‐Oncology Consortium
Mueller, Sabine, Jain, Payal, Liang, Winnie S., Kilburn, Lindsay, Kline, Cassie, Gupta, Nalin, Panditharatna, Eshini, Magge, Suresh N., Zhang, Bo, Zhu, Yuankun, Crawford, John R., Banerjee, Anu, Nazemi, Kellie, Packer, Roger J., Petritsch, Claudia K., Truffaux, Nathalene, Roos, Alison, Nasser, Sara, Phillips, Joanna J., Solomon, David, Molinaro, Annette, Waanders, Angela J., Byron, Sara A., Berens, Michael E., Kuhn, John, Nazarian, Javad, Prados, Michael, Resnick, Adam C.
Published in International journal of cancer (01.10.2019)
Published in International journal of cancer (01.10.2019)
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Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies
Li, Zilin, Li, Xihao, Liu, Yaowu, Shen, Jincheng, Chen, Han, Zhou, Hufeng, Morrison, Alanna C., Boerwinkle, Eric, Lin, Xihong
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Integration of whole genome sequencing and transcriptomics reveals a complex picture of the reestablishment of insecticide resistance in the major malaria vector Anopheles coluzzii
Ingham, Victoria A., Tennessen, Jacob A., Lucas, Eric R., Elg, Sara, Yates, Henrietta Carrington, Carson, Jessica, Guelbeogo, Wamdaogo Moussa, Sagnon, N’Fale, Hughes, Grant L., Heinz, Eva, Neafsey, Daniel E., Ranson, Hilary
Published in PLoS genetics (23.12.2021)
Published in PLoS genetics (23.12.2021)
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A benchmark study of compression software for human short-read sequence data
Betschart, Raphael O., Thalén, Felix, Blankenberg, Stefan, Zoche, Martin, Zeller, Tanja, Ziegler, Andreas
Published in Scientific reports (02.05.2025)
Published in Scientific reports (02.05.2025)
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Optimising nucleic acid recovery from rapid antigen tests for whole genome sequencing of respiratory viruses
Butel-Simoes, G, Steinig, E, Savic, I, Zhanduisenov, M, Papadakis, G, Tran, T, Moselen, J, Caly, L, Williamson, DA, Lim, CK
Published in Journal of clinical virology (01.10.2024)
Published in Journal of clinical virology (01.10.2024)
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Out of Southern East Asia of the Brown Rat Revealed by Large-Scale Genome Sequencing
Zeng, Lin, Ming, Chen, Li, Yan, Su, Ling-Yan, Su, Yan-Hua, Otecko, Newton O, Dalecky, Ambroise, Donnellan, Stephen, Aplin, Ken, Liu, Xiao-Hui, Song, Ying, Zhang, Zhi-Bin, Esmailizadeh, Ali, Sohrabi, Saeed S, Nanaei, Hojjat Asadollahpour, Liu, He-Qun, Wang, Ming-Shan, Ag Atteynine, Solimane, Rocamora, Gérard, Brescia, Fabrice, Morand, Serge, Irwin, David M, Peng, Ming-Sheng, Yao, Yong-Gang, Li, Hai-Peng, Wu, Dong-Dong, Zhang, Ya-Ping
Published in Molecular biology and evolution (01.01.2018)
Published in Molecular biology and evolution (01.01.2018)
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics
Dong, Zirui, Wang, Huilin, Chen, Haixiao, Jiang, Hui, Yuan, Jianying, Yang, Zhenjun, Wang, Wen-Jing, Xu, Fengping, Guo, Xiaosen, Cao, Ye, Zhu, Zhenzhen, Geng, Chunyu, Cheung, Wan Chee, Kwok, Yvonne K., Yang, Huanming, Leung, Tak Yeung, Morton, Cynthia C., Cheung, Sau Wai, Choy, Kwong Wai
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Spectrum of Disease Severity and Phenotype in Choroideremia Carriers
Jauregui, Ruben, Park, Karen Sophia, Tanaka, Akemi J., Cho, Ahra, Paavo, Maarjaliis, Zernant, Jana, Francis, Jasmine H., Allikmets, Rando, Sparrow, Janet R., Tsang, Stephen H.
Published in American journal of ophthalmology (01.11.2019)
Published in American journal of ophthalmology (01.11.2019)
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Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project
Konkle, B. A., Johnsen, J. M., Wheeler, M., Watson, C., Skinner, M., Pierce, G. F.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2018)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2018)
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Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them
Jang, Mi-Ae, Lee, Jong Kwon, Park, Jong-Ho, Hwang, Sungsoon, Kim, Young-gon, Kim, Jong-Won, Hong, Youn-Ji, Kim, Sang Jin, Jang, Ja-Hyun
Published in Scientific reports (24.10.2024)
Published in Scientific reports (24.10.2024)
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Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project
Naj, Adam C., Lin, Honghuang, Vardarajan, Badri N., White, Simon, Lancour, Daniel, Ma, Yiyi, Schmidt, Michael, Sun, Fangui, Butkiewicz, Mariusz, Bush, William S., Kunkle, Brian W., Malamon, John, Amin, Najaf, Choi, Seung Hoan, Hamilton-Nelson, Kara L., van der Lee, Sven J., Gupta, Namrata, Koboldt, Daniel C., Saad, Mohamad, Wang, Bowen, Nato, Alejandro Q., Sohi, Harkirat K., Kuzma, Amanda, Wang, Li-San, Cupples, L. Adrienne, van Duijn, Cornelia, Seshadri, Sudha, Schellenberg, Gerard D., Boerwinkle, Eric, Bis, Joshua C., Dupuis, Josée, Salerno, William J., Wijsman, Ellen M., Martin, Eden R., DeStefano, Anita L.
Published in Genomics (San Diego, Calif.) (01.07.2019)
Published in Genomics (San Diego, Calif.) (01.07.2019)
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Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
Ben-Mahmoud, Afif, Gupta, Vijay, Abdelaleem, Alice, Thompson, Richard, Aden, Abdi, Mbarek, Hamdi, Saad, Chadi, Tolefat, Mohamed, Alshaban, Fouad, Stanton, Lawrence W., Kim, Hyung-Goo
Published in International journal of molecular sciences (01.11.2024)
Published in International journal of molecular sciences (01.11.2024)
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Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Holesova, Zuzana, Pös, Ondrej, Gazdarica, Juraj, Kucharik, Marcel, Budis, Jaroslav, Hyblova, Michaela, Minarik, Gabriel, Szemes, Tomas
Published in BMC genomics (15.04.2024)
Published in BMC genomics (15.04.2024)
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Dissecting Selective Signatures and Candidate Genes in Grandparent Lines Subject to High Selection Pressure for Broiler Production and in a Local Russian Chicken Breed of Ushanka
Romanov, Michael N., Shakhin, Alexey V., Abdelmanova, Alexandra S., Volkova, Natalia A., Efimov, Dmitry N., Fisinin, Vladimir I., Korshunova, Liudmila G., Anshakov, Dmitry V., Dotsev, Arsen V., Griffin, Darren K., Zinovieva, Natalia A.
Published in Genes (22.04.2024)
Published in Genes (22.04.2024)
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Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level
Liang, Jingjing, Cade, Brian E., He, Karen Y., Wang, Heming, Lee, Jiwon, Sofer, Tamar, Williams, Stephanie, Li, Ruitong, Chen, Han, Gottlieb, Daniel J., Evans, Daniel S., Guo, Xiuqing, Gharib, Sina A., Hale, Lauren, Hillman, David R., Lutsey, Pamela L., Mukherjee, Sutapa, Ochs-Balcom, Heather M., Palmer, Lyle J., Rhodes, Jessica, Purcell, Shaun, Patel, Sanjay R., Saxena, Richa, Stone, Katie L., Tang, Weihong, Tranah, Gregory J., Boerwinkle, Eric, Lin, Xihong, Liu, Yongmei, Psaty, Bruce M., Vasan, Ramachandran S., Cho, Michael H., Manichaikul, Ani, Silverman, Edwin K., Barr, R. Graham, Rich, Stephen S., Rotter, Jerome I., Wilson, James G., Redline, Susan, Zhu, Xiaofeng
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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New Insights into the Genetic Basis of Monge’s Disease and Adaptation to High-Altitude
Stobdan, Tsering, Akbari, Ali, Azad, Priti, Zhou, Dan, Poulsen, Orit, Appenzeller, Otto, Gonzales, Gustavo F, Telenti, Amalio, Wong, Emily H M, Saini, Shubham, Kirkness, Ewen F, Venter, J Craig, Bafna, Vineet, Haddad, Gabriel G
Published in Molecular biology and evolution (01.12.2017)
Published in Molecular biology and evolution (01.12.2017)
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