Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation von Kobayashi, Yuya, Yang, Shan, Nykamp, Keith, Garcia, John, Lincoln, Stephen E, Topper, Scott E

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A dynamic model of proteome changes reveals new roles for transcript alteration in yeast von Lee, M Violet, Topper, Scott E, Hubler, Shane L, Hose, James, Wenger, Craig D, Coon, Joshua J, Gasch, Audrey P

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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program von Venner, Eric, Muzny, Donna, Smith, Joshua D, Walker, Kimberly, Neben, Cynthia L, Lockwood, Christina M, Empey, Phillip E, Metcalf, Ginger A, Kachulis, Chris, Mian, Sana, Musick, Anjene, Rehm, Heidi L, Harrison, Steven, Gabriel, Stacey, Gibbs, Richard A, Nickerson, Deborah, Zhou, Alicia Y, Doheny, Kimberly, Ozenberger, Bradley, Topper, Scott E, Lennon, Niall J

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Additional file 2 of Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Progra... von Venner, Eric, Muzny, Donna, Smith, Joshua D., Walker, Kimberly, Neben, Cynthia L., Lockwood, Christina M., Empey, Phillip E., Metcalf, Ginger A., Kachulis, Chris, Mian, Sana, Musick, Anjene, Rehm, Heidi L., Harrison, Steven, Gabriel, Stacey, Gibbs, Richard A., Nickerson, Deborah, Zhou, Alicia Y., Doheny, Kimberly, Ozenberger, Bradley, Topper, Scott E., Lennon, Niall J.

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Inferring Regulatory Networks from Time Series Expression Data and Relational Data Via Inductive Logic Programming von Ong, Irene M., Topper, Scott E., Page, David, Costa, Vítor Santos

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria von Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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Sources of discordance among germ-line variant classifications in ClinVar von Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott

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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup von Walker, Logan C., Hoya, Miguel de la, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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The “All of Us” Research Program von Denny, Joshua C, Rutter, Joni L, Goldstein, David B, Philippakis, Anthony, Smoller, Jordan W, Jenkins, Gwynne, Dishman, Eric

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework von Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, McNulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S

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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach von Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar‐Heyming, Rebecca, McFaddin, Andrew S., Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian H., Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.

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Genomic data in the All of Us Research Program von Bick, Alexander G., Metcalf, Ginger A., Mayo, Kelsey R., Lichtenstein, Lee, Rura, Shimon, Carroll, Robert J., Musick, Anjene, Linder, Jodell E., Jordan, I. King, Nagar, Shashwat Deepali, Sharma, Shivam, Meller, Robert, Basford, Melissa, Boerwinkle, Eric, Cicek, Mine S., Doheny, Kimberly F., Eichler, Evan E., Gabriel, Stacey, Gibbs, Richard A., Glazer, David, Harris, Paul A., Jarvik, Gail P., Philippakis, Anthony, Rehm, Heidi L., Roden, Dan M., Thibodeau, Stephen N., Topper, Scott, Blegen, Ashley L., Wirkus, Samantha J., Wagner, Victoria A., Meyer, Jeffrey G., Muzny, Donna M., Venner, Eric, Mawhinney, Michelle Z., Griffith, Sean M. L., Hsu, Elvin, Ling, Hua, Adams, Marcia K., Walker, Kimberly, Hu, Jianhong, Doddapaneni, Harsha, Kovar, Christie L., Murugan, Mullai, Dugan, Shannon, Khan, Ziad, Lennon, Niall J., Austin-Tse, Christina, Banks, Eric, Gatzen, Michael, Gupta, Namrata, Henricks, Emma, Larsson, Katie, McDonough, Sheli, Harrison, Steven M., Kachulis, Christopher, Lebo, Matthew S., Neben, Cynthia L., Steeves, Marcie, Zhou, Alicia Y., Smith, Joshua D., Frazar, Christian D., Davis, Colleen P., Patterson, Karynne E., Wheeler, Marsha M., McGee, Sean, Lockwood, Christina M., Shirts, Brian H., Pritchard, Colin C., Murray, Mitzi L., Vasta, Valeria, Leistritz, Dru, Richardson, Matthew A., Buchan, Jillian G., Radhakrishnan, Aparna, Krumm, Niklas, Ehmen, Brenna W., Schwartz, Sophie, Aster, M. Morgan T., Cibulskis, Kristian, Haessly, Andrea, Asch, Rebecca, Cremer, Aurora, Degatano, Kylee, Shergill, Akum, Gauthier, Laura D., Lee, Samuel K., Hatcher, Aaron, Grant, George B., Brandt, Genevieve R., Covarrubias, Miguel, Able, Ashley, Green, Ashley E., Zhang, Jennifer, Condon, Henry R., Wang, Yuanyuan, Dillon, Moira K., Albach, C. H., Baalawi, Wail, Choi, Seung Hoan, Wang, Xin

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Identification of a Novel Family of Cell-surface Proteins Expressed in Human Vascular Endothelium von Yang, Ruey-Bing, Ng, Chi Kin Domingos, Wasserman, Scott M, Colman, Steven D, Shenoy, Suresh, Mehraban, Fuad, Komuves, Laszlo G, Tomlinson, James E, Topper, James N

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Select EZH2 inhibitors enhance viral mimicry effects of DNMT inhibition through a mechanism involving NFAT:AP-1 signaling von Chomiak, Alison A, Tiedemann, Rochelle L, Liu, Yanqing, Kong, Xiangqian, Cui, Ying, Wiseman, Ashley K, Thurlow, Kate E, Cornett, Evan M, Topper, Michael J, Baylin, Stephen B, Rothbart, Scott B

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods von Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E., Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A., Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K., Ly, Melissa, Neumann, Andrew J., Pal, Lipika R., Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C., Srinivasan, Rajgopal, Yee, Stephen F., Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A., Hosur, Raghavendra, Peng, Jian, Bernard, Brady M., Berry, Michael, Dong, Shengcheng, Boyle, Alan P., Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J., Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S., De Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lars, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J., Wei, Qiong, Xu, Qifang, Dunbrack, Roland L., Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V., Makeev, Vsevolod J., Penzar, Dmitry D., Vorontsov, Ilya E., Favorov, Alexander V., Forman, Julia R., Hasenahuer, Marcia, Fornasari, Maria S., Parisi, Gustavo, Avsec, Ziga, Çelik, Muhammed H., Nguyen, Thi Yen Duong, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D., Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K., Göke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham R. S., Frankish, Adam, Mudge, Jonathan M., Harrow, Jennifer, Young, Erin L., Yu, Yao

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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations von Stenton, Sarah L., Pejaver, Vikas, Bergquist, Timothy, Biesecker, Leslie G., Byrne, Alicia B., Nadeau, Emily A.W., Greenblatt, Marc S., Harrison, Steven M., Tavtigian, Sean V., Radivojac, Predrag, Brenner, Steven E., O’Donnell-Luria, Anne, Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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Genomic data in the All of Us Research Program von Basford, Melissa, Boerwinkle, Eric, Cicek, Mine S, Eichler, Evan E, Gabriel, Stacey, Gibbs, Richard A, Glazer, David, Harris, Paul A, Jarvik, Gail P, Philippakis, Anthony, Roden, Dan M, Thibodeau, Stephen N, Topper, Scott, Biegen, Ashley L, Wirkus, Samantha J, Wagner, Victoria A, Meyer, Jeffrey G, Thibodeau, Stephen, Muzny, Donna M, Metcalf, Ginger A, Venner, Eric, Mawhinney, Michelle Z, Griffith, Sean M L, Hsu, Elvin, Ling, Hua, Adams, Marcia K, Walker, Kimberly, Hu, Jianhong, Doddapaneni, Harsha, Kovar, Christie L, Dugan, Shannon, Khan, Ziad, Lennon, Niall J, Austin-Tse, Christina, Banks, Eric, Gatzen, Michael, Gupta, Namrata, Henricks, Emma, McDonough, Shell, Harrison, Steven M, Lebo, Matthew S, Neben, Cynthia L, Steeves, Marcie, Zhou, Alicia Y, Smith, Joshua D, Frazar, Christian D, Davis, Colleen P, Patterson, Karynne E, Wheeler, Marsha M, McGee, Sean, Lockwood, Christina M, Shirts, Brian H, Murray, Mitzi L, Vasta, Valeria, Leistritz, Dru, Richardson, Matthew A, Buchan, Jillian G, Radhakrishnan, Aparna, Krumm, Niklas, Ehmen, Brenna W, Schwartz, Sophie, Aster, M Morgan T, Cibulskis, Kristian, Haessly, Andrea, Asch, Rebecca, Cremer, Aurora, Degatano, Kylee, Lee, Samuel K, Hatcher, Aaron, Grant, George B, Brandt, Genevieve R, Covarrubias, Miguel, Bick, Alexander G, Able, Ashley, Mayo, Kelsey R, Green, Ashley E, Carroll, Robert J, Linder, Jodell E, Zhang, Jennifer, Condon, Henry R, Wang, Yuanyuan, Rura, Shimon, Dillon, Moira K, Albach, C H, Baalawi, Wail, Choi, Seung Hoan, Wang, Xin, Rosenthal, Elisabeth A, Jordan, King, Sharma, Shivam, Meller, Robert, Ramirez, Andrea H, Lim, Sokny, Nambiar, Siddhartha, Musick, Anjene, Ozenberger, Bradley, Wise, Anastasia L, Lunt, Chris, Ginsburg, Geoffrey S, Denny, Joshua C

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Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar von Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott

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Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar von Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott

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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities von Venner, Eric, Patterson, Karynne, Kalra, Divya, Wheeler, Marsha M., Chen, Yi-Ju, Kalla, Sara E., Yuan, Bo, Karnes, Jason H., Walker, Kimberly, Smith, Joshua D., McGee, Sean, Radhakrishnan, Aparna, Haddad, Andrew, Empey, Philip E., Wang, Qiaoyan, Lichtenstein, Lee, Toledo, Diana, Jarvik, Gail, Musick, Anjene, Gibbs, Richard A.

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