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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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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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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A quantitative framework for characterizing the evolutionary history of mammalian gene expression von Chen, Jenny, Swofford, Ross, Johnson, Jeremy, Cummings, Beryl B, Rogel, Noga, Lindblad-Toh, Kerstin, Haerty, Wilfried, Palma, Federica di, Regev, Aviv

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant von Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., Cooper, Sandra T.

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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome von Carlston, Colleen M., O'Donnell‐Luria, Anne H., Underhill, Hunter R., Cummings, Beryl B., Weisburd, Ben, Minikel, Eric V., Birnbaum, Daniel P., Tvrdik, Tatiana, MacArthur, Daniel G., Mao, Rong

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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy von Bryen, Samantha J., Oates, Emily C., Evesson, Frances J., Lu, Jessica K., Waddell, Leigh B., Joshi, Himanshu, Ryan, Monique M., Cummings, Beryl B., McLean, Catriona A., MacArthur, Daniel G., Kornberg, Andrew J., Cooper, Sandra T.

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Author Correction: Evaluating drug targets through human loss-of-function genetic variation von Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.

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The Genetic Landscape of Diamond-Blackfan Anemia von Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.

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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy von Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Geist Hauserman, Janelle, Cummings, Beryl B, Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S, Ghosh, Partha S, Monaghan, Kristin G, Edassery, Seby L, Ferle, Pia E, Silverstein, Sarah, Chao, Katherine R, Snyder, Molly, Ellingwood, Sara, Bharucha‐Goebel, Diana, Iannaccone, Susan T, Dal Peraro, Matteo, Foley, A Reghan, Savas, Jeffrey N, Bolduc, Véronique, Fasshauer, Dirk, Bönnemann, Carsten G, Schwake, Michael

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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin von Riley, Lisa G, Waddell, Leigh B, Ghaoui, Roula, Evesson, Frances J, Cummings, Beryl B, Bryen, Samantha J, Joshi, Himanshu, Wang, Min-Xia, Brammah, Susan, Kritharides, Leonard, Corbett, Alastair, MacArthur, Daniel G, Cooper, Sandra T

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Author Correction: Transcript expression-aware annotation improves rare variant interpretation von Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.

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Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child von Rius, Rocio, Riley, Lisa G., Guo, Yiran, Menezes, Minal, Compton, Alison G., Van Bergen, Nicole J., Gayevskiy, Velimir, Cowley, Mark J., Cummings, Beryl B., Adams, Louisa, Ellaway, Carolyn, Thorburn, David R., Hakonarson, Hakon, Christodoulou, John

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Corrigendum: Landscape of X chromosome inactivation across human tissues von Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A, Marshall, Jamie L, Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B, Castel, Stephane E, Karczewski, Konrad J, Aguet, François, Byrnes, Andrea, Consortium, GTEx, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G, Hacohen, Nir, MacArthur, Daniel G

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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies von Bolduc, Véronique, Foley, A Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S, Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B, Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L, Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D, Lamandé, Shireen R, MacArthur, Daniel G, Wagener, Raimund, Muntoni, Francesco, Bönnemann, Carsten G

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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase von Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.

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Analysis of protein-coding genetic variation in 60,706 humans von Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.

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Genetic effects on gene expression across human tissues von Battle, Alexis, Brown, Christopher D, Engelhardt, Barbara E, Montgomery, Stephen B

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A genomic mutational constraint map using variation in 76,156 human genomes von Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, O’Donnell-Luria, Anne, Solomonson, Matthew, Seed, Cotton, Martin, Alicia R., Talkowski, Michael E., Rehm, Heidi L., Daly, Mark J., Tiao, Grace, Neale, Benjamin M., MacArthur, Daniel G., Karczewski, Konrad J.

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Landscape of X chromosome inactivation across human tissues von Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G.

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