Variant interpretation using population databases: Lessons from gnomAD von Gudmundsson, Sanna, Singer‐Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne

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The ExAC browser: displaying reference data information from over 60 000 exomes von Karczewski, Konrad J, Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M, Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E, Cummings, Beryl B, Birnbaum, Daniel, Daly, Mark J, MacArthur, Daniel G

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Dindel: accurate indel calls from short-read data von Albers, Cornelis A, Lunter, Gerton, MacArthur, Daniel G, McVean, Gilean, Ouwehand, Willem H, Durbin, Richard

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples von Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J

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Transcriptome variation in human tissues revealed by long-read sequencing von Glinos, Dafni A., Garborcauskas, Garrett, Hoffman, Paul, Ehsan, Nava, Jiang, Lihua, Gokden, Alper, Dai, Xiaoguang, Aguet, François, Brown, Kathleen L., Garimella, Kiran, Bowers, Tera, Costello, Maura, Ardlie, Kristin, Jian, Ruiqi, Tucker, Nathan R., Ellinor, Patrick T., Harrington, Eoghan D., Tang, Hua, Snyder, Michael, Juul, Sissel, Mohammadi, Pejman, MacArthur, Daniel G., Lappalainen, Tuuli, Cummings, Beryl B.

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STRetch: detecting and discovering pathogenic short tandem repeat expansions von Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S, Laing, Nigel G, MacArthur, Daniel G, Oshlack, Alicia

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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity von Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M.

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Estimating the selective effects of heterozygous protein-truncating variants from human exome data von Cassa, Christopher A, Weghorn, Donate, Balick, Daniel J, Jordan, Daniel M, Nusinow, David, Samocha, Kaitlin E, O'Donnell-Luria, Anne, MacArthur, Daniel G, Daly, Mark J, Beier, David R, Sunyaev, Shamil R

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes von Ruderfer, Douglas M, Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J, Kavanagh, David, Samocha, Kaitlin E, Daly, Mark J, MacArthur, Daniel G, Fromer, Menachem, Purcell, Shaun M

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Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci von Lessard, Samuel, Francioli, Laurent, Alfoldi, Jessica, Tardif, Jean-Claude, Ellinor, Patrick T., MacArthur, Daniel G., Lettre, Guillaume, Orkin, Stuart H., Canver, Matthew C.

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Origins and functional impact of copy number variation in the human genome von Scherer, Stephen W, Hurles, Matthew E, Conrad, Donald F, Pinto, Dalila, Redon, Richard, Feuk, Lars, Gokcumen, Omer, Zhang, Yujun, Aerts, Jan, Andrews, T. Daniel, Barnes, Chris, Campbell, Peter, Fitzgerald, Tomas, Hu, Min, Ihm, Chun Hwa, Kristiansson, Kati, MacArthur, Daniel G, MacDonald, Jeffrey R, Onyiah, Ifejinelo, Pang, Andy Wing Chun, Robson, Sam, Stirrups, Kathy, Valsesia, Armand, Walter, Klaudia, Wei, John, Tyler-Smith, Chris, Carter, Nigel P, Lee, Charles

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From patients to partners: participant-centric initiatives in biomedical research von Kaye, Jane, Curren, Liam, Anderson, Nick, Edwards, Kelly, Fullerton, Stephanie M., Kanellopoulou, Nadja, Lund, David, MacArthur, Daniel G., Mascalzoni, Deborah, Shepherd, James, Taylor, Patrick L., Terry, Sharon F., Winter, Stefan F.

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease von Mohammadi, Pejman, Castel, Stephane E, Cummings, Beryl B, Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A Reghan, Wheeler, Heather E, Im, Hae Kyung, Bonnemann, Carsten G, MacArthur, Daniel G, Lappalainen, Tuuli

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Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people von Finer, Sarah, Martin, Hilary C, Khan, Ahsan, Hunt, Karen A, MacLaughlin, Beverley, Ahmed, Zaheer, Ashcroft, Richard, Durham, Ceri, MacArthur, Daniel G, McCarthy, Mark I, Robson, John, Trivedi, Bhavi, Griffiths, Chris, Wright, John, Trembath, Richard C, van Heel, David A

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A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica von Estrada, Karol, Whelan, Christopher W., Zhao, Fengmei, Bronson, Paola, Handsaker, Robert E., Sun, Chao, Carulli, John P., Harris, Tim, Ransohoff, Richard M., McCarroll, Steven A., Day-Williams, Aaron G., Greenberg, Benjamin M., MacArthur, Daniel G.

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The landscape of genomic imprinting across diverse adult human tissues von Baran, Yael, Subramaniam, Meena, Biton, Anne, Tukiainen, Taru, Tsang, Emily K, Rivas, Manuel A, Pirinen, Matti, Gutierrez-Arcelus, Maria, Smith, Kevin S, Kukurba, Kim R, Zhang, Rui, Eng, Celeste, Torgerson, Dara G, Urbanek, Cydney, Li, Jin Billy, Rodriguez-Santana, Jose R, Burchard, Esteban G, Seibold, Max A, MacArthur, Daniel G, Montgomery, Stephen B, Zaitlen, Noah A, Lappalainen, Tuuli

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Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis von Minikel, Eric Vallabh, MacArthur, Daniel G.

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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects von Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.

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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes von Wieder, Nechama, D'Souza, Elston N, Martin-Geary, Alexandra C, Lassen, Frederik H, Talbot-Martin, Jonathan, Fernandes, Maria, Chothani, Sonia P, Rackham, Owen J L, Schafer, Sebastian, Aspden, Julie L, MacArthur, Daniel G, Davies, Robert W, Whiffin, Nicola

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From variant to function in human disease genetics von Lappalainen, Tuuli, MacArthur, Daniel G.

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