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Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects
Wang, Hui, Dombroski, Beth A., Cheng, Po‐Liang, Tucci, Albert, Si, Ya‐Qin, Farrell, John J., Tzeng, Jung‐Ying, Leung, Yuk Yee, Malamon, John S., Wang, Li‐San, Vardarajan, Badri N., Farrer, Lindsay A., Schellenberg, Gerard D., Lee, Wan‐Ping
Published in Alzheimer's & dementia (01.06.2025)
Published in Alzheimer's & dementia (01.06.2025)
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Large-scale genotype prediction from RNA sequence data necessitates a new ethical and policy framework
Majumder, Mary A., Leek, Jeffrey T., Hansen, Kasper D., Razi, Afrooz, McGuire, Amy L.
Published in Nature genetics (01.08.2024)
Published in Nature genetics (01.08.2024)
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Genetic variants of flavin-containing monooxygenase 3 (FMO3) derived from Japanese subjects with the trimethylaminuria phenotype and whole-genome sequence data from a large Japanese database
Shimizu, Makiko, Yoda, Hiromi, Nakakuki, Komei, Saso, Aoi, Saito, Iria, Hishinuma, Eiji, Saito, Sakae, Hiratsuka, Masahiro, Yamazaki, Hiroshi
Published in Drug metabolism and pharmacokinetics (01.10.2019)
Published in Drug metabolism and pharmacokinetics (01.10.2019)
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The LISTEN principles for genetic sequence data governance and database engineering
Carlson, Colin J., Granados, Monica, Phelan, Alexandra, Ramakrishnan, Nithin, Poisot, Timothée
Published in Nature genetics (28.07.2025)
Published in Nature genetics (28.07.2025)
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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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Developing reduced SNP assays from whole‐genome sequence data to estimate introgression in an organism with complex genetic patterns, the Iberian honeybee (Apis mellifera iberiensis)
Henriques, Dora, Parejo, Melanie, Vignal, Alain, Wragg, David, Wallberg, Andreas, Webster, Matthew T., Pinto, M. Alice
Published in Evolutionary applications (01.09.2018)
Published in Evolutionary applications (01.09.2018)
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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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A Nasal Brush-based Classifier of Asthma Identified by Machine Learning Analysis of Nasal RNA Sequence Data
Pandey, Gaurav, Pandey, Om P., Rogers, Angela J., Ahsen, Mehmet E., Hoffman, Gabriel E., Raby, Benjamin A., Weiss, Scott T., Schadt, Eric E., Bunyavanich, Supinda
Published in Scientific reports (11.06.2018)
Published in Scientific reports (11.06.2018)
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The multidimensional legal nature of personal genomic sequence data: A South African perspective
Thaldar, Donrich W., Townsend, Beverley A., Donnelly, Dusty-Lee, Botes, Marietjie, Gooden, Amy, van Harmelen, Joanne, Shozi, Bonginkosi
Published in Frontiers in genetics (09.11.2022)
Published in Frontiers in genetics (09.11.2022)
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Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy
Golbus, Jessica R., Puckelwartz, Megan J., Dellefave-Castillo, Lisa, Fahrenbach, John P., Nelakuditi, Viswateja, Pesce, Lorenzo L., Pytel, Peter, McNally, Elizabeth M.
Published in Circulation. Cardiovascular genetics (01.12.2014)
Published in Circulation. Cardiovascular genetics (01.12.2014)
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Phylogeny of Thaumastodermatidae (Gastrotricha: Macrodasyida) Inferred from Nuclear and Mitochondrial Sequence Data
Todaro, M. Antonio, Kånneby, Tobias, Dal Zotto, Matteo, Jondelius, Ulf
Published in PloS one (24.03.2011)
Published in PloS one (24.03.2011)
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Recurrent miscalling of missense variation from short-read genome sequence data
Field, Matthew A., Burgio, Gaetan, Chuah, Aaron, Al Shekaili, Jalila, Hassan, Batool, Al Sukaiti, Nashat, Foote, Simon J., Cook, Matthew C., Andrews, T. Daniel
Published in BMC genomics (16.07.2019)
Published in BMC genomics (16.07.2019)
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Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Rosenthal, Elisabeth A., Ranchalis, Jane, Crosslin, David R., Burt, Amber, Brunzell, John D., Motulsky, Arno G., Nickerson, Deborah A., Wijsman, Ellen M., Jarvik, Gail P.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Variant antigen repertoires in Trypanosoma congolense populations and experimental infections can be profiled from deep sequence data using universal protein motifs
Silva Pereira, Sara, Casas-Sánchez, Aitor, Haines, Lee R., Ogugo, Moses, Absolomon, Kihara, Sanders, Mandy, Kemp, Steve, Acosta-Serrano, Álvaro, Noyes, Harry, Berriman, Matthew, Jackson, Andrew P.
Published in Genome research (01.09.2018)
Published in Genome research (01.09.2018)
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Inferring evolutionary responses of Anolis carolinensis introduced into the Ogasawara archipelago using whole genome sequence data
Tamate, Satoshi, Iwasaki, Watal M., Krysko, Kenneth L., Camposano, Brian J., Mori, Hideaki, Funayama, Ryo, Nakayama, Keiko, Makino, Takashi, Kawata, Masakado
Published in Scientific reports (21.12.2017)
Published in Scientific reports (21.12.2017)
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