Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families von Singleton, Marc V., Guthery, Stephen L., Voelkerding, Karl V., Chen, Karin, Kennedy, Brett, Margraf, Rebecca L., Durtschi, Jacob, Eilbeck, Karen, Reese, Martin G., Jorde, Lynn B., Huff, Chad D., Yandell, Mark

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The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool von Flygare, Steven, Hernandez, Edgar Javier, Phan, Lon, Moore, Barry, Li, Man, Fejes, Anthony, Hu, Hao, Eilbeck, Karen, Huff, Chad, Jorde, Lynn, G Reese, Martin, Yandell, Mark

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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix von Hu, Hao, Huff, Chad D., Moore, Barry, Flygare, Steven, Reese, Martin G., Yandell, Mark

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases von Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding von McKernan, Kevin Judd, Peckham, Heather E, Costa, Gina L, McLaughlin, Stephen F, Fu, Yutao, Tsung, Eric F, Clouser, Christopher R, Duncan, Cisyla, Ichikawa, Jeffrey K, Lee, Clarence C, Zhang, Zheng, Ranade, Swati S, Dimalanta, Eileen T, Hyland, Fiona C, Sokolsky, Tanya D, Zhang, Lei, Sheridan, Andrew, Fu, Haoning, Hendrickson, Cynthia L, Li, Bin, Kotler, Lev, Stuart, Jeremy R, Malek, Joel A, Manning, Jonathan M, Antipova, Alena A, Perez, Damon S, Moore, Michael P, Hayashibara, Kathleen C, Lyons, Michael R, Beaudoin, Robert E, Coleman, Brittany E, Laptewicz, Michael W, Sannicandro, Adam E, Rhodes, Michael D, Gottimukkala, Rajesh K, Yang, Shan, Bafna, Vineet, Bashir, Ali, MacBride, Andrew, Alkan, Can, Kidd, Jeffrey M, Eichler, Evan E, Reese, Martin G, De La Vega, Francisco M, Blanchard, Alan P

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A standard variation file format for human genome sequences von Reese, Martin G, Moore, Barry, Batchelor, Colin, Salas, Fidel, Cunningham, Fiona, Marth, Gabor T, Stein, Lincoln, Flicek, Paul, Yandell, Mark, Eilbeck, Karen

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Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing von Bhattacharjee, Arindam, Sokolsky, Tanya, Wyman, Stacia K., Reese, Martin G., Puffenberger, Erik, Strauss, Kevin, Morton, Holmes, Parad, Richard B., Naylor, Edwin W.

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Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins von Yandell, Mark, Moore, Barry, Salas, Fidel, Mungall, Chris, MacBride, Andrew, White, Charles, Reese, Martin G

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Response to Grosse et al von Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas

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Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation von KIDD, Jeffrey M, GRAVEL, Simon, MCLAUGHLIN, Stephen F, PECKHAM, Heather E, OMBERG, Larsson, BORMANN CHUNG, Christina A, STANLEY, Sarah, PEARLSTEIN, Kevin, LEVANDOWSKY, Elizabeth, ACEVEDO-ACEVEDO, Suehelay, AUTON, Adam, KEINAN, Alon, BYRNES, Jake, ACUNA-ALONZO, Victor, BARQUERA-LOZANO, Rodrigo, CANIZALES-QUINTEROS, Samuel, ENG, Celeste, BURCHARD, Esteban G, RUSSELL, Archie, REYNOLDS, Andy, CLARK, Andrew G, REESE, Martin G, LINCOLN, Stephen E, MORENO-ESTRADA, Andres, BUTTE, Atul J, DE LA VEGA, Francisco M, BUSTAMANTE, Carlos D, MUSHAROFF, Shaila, BRYC, Katarzyna, DEGENHARDT, Jeremiah D, BRISBIN, Abra, SHETH, Vrunda, RONG CHEN

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EGASP: the human ENCODE Genome Annotation Assessment Project von Guigó, Roderic, Flicek, Paul, Abril, Josep F, Reymond, Alexandre, Lagarde, Julien, Denoeud, France, Antonarakis, Stylianos, Ashburner, Michael, Bajic, Vladimir B, Birney, Ewan, Castelo, Robert, Eyras, Eduardo, Ucla, Catherine, Gingeras, Thomas R, Harrow, Jennifer, Hubbard, Tim, Lewis, Suzanna E, Reese, Martin G

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Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing Data von Kennedy, Brett, Kronenberg, Zev, Hu, Hao, Moore, Barry, Flygare, Steven, Reese, Martin G., Jorde, Lynn B., Yandell, Mark, Huff, Chad

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EGASP: collaboration through competition to find human genes von Guigó, Roderic, Reese, Martin G

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Annotating eukaryote genomes von Lewis, Suzanna, Ashburner, Michael, Reese, Martin G

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EGASP: Introduction von Reese, Martin G, Guigó, Roderic

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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases von De la Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Loescher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Ounap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.

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Improved splice site detection in Genie von Reese, M G, Eeckman, F H, Kulp, D, Haussler, D

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EGASP: the human ENCODE Genome Annotation Assessment Project von Guigó Serra, Roderic, Flicek, Paul, Abril Ferrando, Josep Francesc, 1970, Reymond, Alexandre, Lagarde, Julien, Denoeud, France, Antonarakis, Stylianos E, Ashburner, Michael, Bajic, Vladimir B, Birney, Ewan, Castelo, Robert, Eyras, Eduardo, Ucla, Catherine, Gingeras, Thomas R, Harrow, Jennifer, Hubbard, Tim, Lewis, Suzanna E, Reese, Martin G

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Genome-Wide Analysis of Human Disease Alleles Reveals That Their Locations Are Correlated in Paralogous Proteins: e1000218 von Yandell, Mark, Moore, Barry, Salas, Fidel, Mungall, Chris, MacBride, Andrew, White, Charles, Reese, Martin G

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Methods of Selection, Reporting and Analysis of Genetic Markers Using Broad-Based Genetic Profiling Applications von REESE MARTIN G, WHITE CHARLES

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