Search Results - "Waggott, Daryl"

NanoStringNorm: an extensible R package for the pre-processing of NanoString mRNA and miRNA data by WAGGOTT, Daryl, CHU, Kenneth, SHAOMING YIN, WOUTERS, Bradly G, LIU, Fei-Fei, BOUTROS, Paul C

“…The NanoString nCounter Platform is a new and promising technology for measuring nucleic acid abundances. It has several advantages over PCR-based techniques,…”
Get full text

Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank by Tikkanen, Emmi, Gustafsson, Stefan, Amar, David, Shcherbina, Anna, Waggott, Daryl, Ashley, Euan A., Ingelsson, Erik

“…We performed a large genome-wide association study to discover genetic variation associated with muscular strength, and to evaluate shared genetic aetiology…”
Get full text

Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort by Shcherbina, Anna, Mattsson, C Mikael, Waggott, Daryl, Salisbury, Heidi, Christle, Jeffrey W, Hastie, Trevor, Wheeler, Matthew T, Ashley, Euan A

“…The ability to measure physical activity through wrist-worn devices provides an opportunity for cardiovascular medicine. However, the accuracy of commercial…”
Get full text

Medical implications of technical accuracy in genome sequencing by Goldfeder, Rachel L, Priest, James R, Zook, Justin M, Grove, Megan E, Waggott, Daryl, Wheeler, Matthew T, Salit, Marc, Ashley, Euan A

“…As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for…”
Get full text

Physical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study by Hershman, Steven G., Bot, Brian M., Shcherbina, Anna, Doerr, Megan, Moayedi, Yasbanoo, Pavlovic, Aleksandra, Waggott, Daryl, Cho, Mildred K., Rosenberger, Mary E., Haskell, William L., Myers, Jonathan, Champagne, Mary Ann, Mignot, Emmanuel, Salvi, Dario, Landray, Martin, Tarassenko, Lionel, Harrington, Robert A., Yeung, Alan C., McConnell, Michael V., Ashley, Euan A.

“…Studies have established the importance of physical activity and fitness for long-term cardiovascular health, yet limited data exist on the association between…”
Get full text

Novel PRKD gene rearrangements and variant fusions in cribriform adenocarcinoma of salivary gland origin by Weinreb, Ilan, Zhang, Lei, Tirunagari, Laxmi MS, Sung, Yun-Shao, Chen, Chun-Liang, Perez-Ordonez, Bayardo, Clarke, Blaise A, Skalova, Alena, Chiosea, Simion I, Seethala, Raja R, Waggott, Daryl, Boutros, Paul C, How, Christine, Liu, Fei-Fei, Irish, Jonathan C, Goldstein, David P, Gilbert, Ralph, ud Din, Nasir, Assaad, Adel, Hornick, Jason L, Thompson, Lester DR, Antonescu, Cristina R

“…Polymorphous low‐grade adenocarcinoma (PLGA) and cribriform adenocarcinoma of minor salivary gland (CAMSG) are low‐grade carcinomas arising most often in oral…”
Get full text

Systematic evaluation of medium-throughput mRNA abundance platforms by Prokopec, Stephenie D, Watson, John D, Waggott, Daryl M, Smith, Ashley B, Wu, Alexander H, Okey, Allan B, Pohjanvirta, Raimo, Boutros, Paul C

“…Profiling of mRNA abundances with high-throughput platforms such as microarrays and RNA-seq has become an important tool in both basic and biomedical research…”
Get full text

Identification of a microRNA signature associated with risk of distant metastasis in nasopharyngeal carcinoma by Bruce, Jeff P, Hui, Angela B Y, Shi, Wei, Perez-Ordonez, Bayardo, Weinreb, Ilan, Xu, Wei, Haibe-Kains, Benjamin, Waggott, Daryl M, Boutros, Paul C, O'Sullivan, Brian, Waldron, John, Huang, Shao Hui, Chen, Eric X, Gilbert, Ralph, Liu, Fei-Fei

“…Despite significant improvement in locoregional control in the contemporary era of nasopharyngeal carcinoma (NPC) treatment, patients still suffer from a…”
Get full text

The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study by Shcherbina, Anna, Hershman, Steven G, Lazzeroni, Laura, King, Abby C, O'Sullivan, Jack W, Hekler, Eric, Moayedi, Yasbanoo, Pavlovic, Aleksandra, Waggott, Daryl, Sharma, Abhinav, Yeung, Alan, Christle, Jeffrey W, Wheeler, Matthew T, McConnell, Michael V, Harrington, Robert A, Ashley, Euan A

“…Smartphone apps might enable interventions to increase physical activity, but few randomised trials testing this hypothesis have been done. The MyHeart Counts…”
Get full text

Developing a prognostic micro-RNA signature for human cervical carcinoma by How, Christine, Pintilie, Melania, Bruce, Jeff P, Hui, Angela B Y, Clarke, Blaise A, Wong, Philip, Yin, Shaoming, Yan, Rui, Waggott, Daryl, Boutros, Paul C, Fyles, Anthony, Hedley, David W, Hill, Richard P, Milosevic, Michael, Liu, Fei-Fei

“…Cervical cancer remains the third most frequently diagnosed and fourth leading cause of cancer death in women worldwide. We sought to develop a micro-RNA…”
Get full text

A Genome-Wide Association Study Identifies a Novel Major Locus for Glycemic Control in Type 1 Diabetes, as Measured by Both A1C and Glucose by PATERSON, Andrew D, WAGGOTT, Daryl, BELOW, Jennifer E, NICOLAE, Dan, COX, Nancy J, CANTY, Angelo J, LEI SUN, BULL, Shelley B, BORIGHT, Andrew P, MOHSEN HOSSEINI, S, ENQING SHEN, SYLVESTRE, Marie-Pierre, WONG, Isidro, BHARAJ, Bhupinder, CLEARY, Patricia A, LACHIN, John M

“…A Genome-Wide Association Study Identifies a Novel Major Locus for Glycemic Control in Type 1 Diabetes, as Measured by Both A1C and Glucose Andrew D. Paterson…”
Get full text

Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort by Hotaling, James M, Waggott, Daryl R, Goldberg, Jack, Jarvik, Gail, Paterson, Andrew D, Cleary, Patricia A, Lachin, John, Sarma, Aruna, Wessells, Hunter

“…We identified genetic predictors of diabetes associated erectile dysfunction using genome-wide and candidate gene approaches in a cohort of men with type 1…”
Get more information

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data by Dewey, Frederick E, Grove, Megan E, Priest, James R, Waggott, Daryl, Batra, Prag, Miller, Clint L, Wheeler, Matthew, Zia, Amin, Pan, Cuiping, Karzcewski, Konrad J, Miyake, Christina, Whirl-Carrillo, Michelle, Klein, Teri E, Datta, Somalee, Altman, Russ B, Snyder, Michael, Quertermous, Thomas, Ashley, Euan A

“…High throughput sequencing has facilitated a precipitous drop in the cost of genomic sequencing, prompting predictions of a revolution in medicine via genetic…”
Get full text

A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases by Dowthwaite, Samuel A., Palma, David A., Fung, Kevin, Wehrli, Bret, MacNeil, S. Danielle, Lambin, Philippe, Winquist, Eric, Koropatnick, James, Mymryk, Joe S., Boutros, Paul C., Barrett, John W., Nichols, Anthony C., Harding, Nicholas J., Waggott, Daryl, Starmans, Maud H. W., Chan-Seng-Yue, Michelle, Yoo, John, Agrawal, Sumit K.

“…We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent…”
Get full text

Long-read genome sequencing identifies causal structural variation in a Mendelian disease by Merker, Jason D., Wenger, Aaron M., Sneddon, Tam, Grove, Megan, Zappala, Zachary, Fresard, Laure, Waggott, Daryl, Utiramerur, Sowmi, Hou, Yanli, Smith, Kevin S., Montgomery, Stephen B., Wheeler, Matthew, Buchan, Jillian G., Lambert, Christine C., Eng, Kevin S., Hickey, Luke, Korlach, Jonas, Ford, James, Ashley, Euan A.

“…Current clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural…”
Get full text

Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection by Ewing, Adam D, Houlahan, Kathleen E, Hu, Yin, Ellrott, Kyle, Caloian, Cristian, Yamaguchi, Takafumi N, Bare, J Christopher, P'ng, Christine, Waggott, Daryl, Sabelnykova, Veronica Y, Kellen, Michael R, Norman, Thea C, Haussler, David, Friend, Stephen H, Stolovitzky, Gustavo, Margolin, Adam A, Stuart, Joshua M, Boutros, Paul C

“…The first report of the ICGC-TCGA DREAM Somatic Mutation Calling Challenge introduces the BAMSurgeon tool for accurate tumor simulation and reports the…”
Get full text

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome by Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Mohr, Stephanie E., Adams, Christopher J., Allard, Patrick, Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Birch, Camille L., Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Dell’Angelica, Esteban C., Donnell-Fink, Laurel A., Draper, David D., Dries, Annika M., Emrick, Lisa T., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Hackbarth, Mary E., Hamid, Rizwan, Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Johnston, Jean M., Koeller, David M., Kohler, Jennefer N., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lee, Paul R., Levy, Shawn E., Liebendorfer, Adam P., Loomis, Carson R., Maas, Richard L., MacRae, Calum A., Manolio, Teri A., McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Newberry, J. Scott, Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pena, Loren D.M., Posey, Jennifer E., Potocki, Lorraine, Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Soldatos, Ariane G., Splinter, Kimberly, Stoler, Joan M., Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Vilain, Eric, Wahl, Colleen E., Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wolfe, Lynne A., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Perrimon, Norbert, Bellen, Hugo J.

“…One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on…”
Get full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease by Ramoni, Rachel B., Mulvihill, John J., Adams, David R., Allard, Patrick, Ashley, Euan A., Gahl, William A., Loscalzo, Joseph, Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Balasubramanyam, Ashok, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Eckstein, David J., Estwick, Tyra, Godfrey, Rena A., Goheen, Mitchell, Goldstein, David B., Gordon, Mary “Gracie” G., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Handley, Lori H., Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jones, Angela L., Koehler, Alanna E., Kohler, Jennefer N., Krasnewich, Donna M., Kyle, Jennifer E., Latham, Lea, Lau, C. Christopher, Lazar, Jozef, Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McConkie-Rosell, Allyn, Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Palmer, Christina G.S., Phillips, John A., Postlethwait, John H., Rosenfeld, Jill A., Schaffer, Katherine E., Schroeder, Molly C., Scott, Daryl A., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tolman, Nathanial J., Tran, Alyssa A., Valivullah, Zaheer M., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Wheeler, Matthew T., Yu, Guoyun, Wise, Anastasia L.

“…Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease…”
Get full text

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands by Weinreb, Ilan, Piscuoglio, Salvatore, Martelotto, Luciano G, Waggott, Daryl, Ng, Charlotte K Y, Perez-Ordonez, Bayardo, Harding, Nicholas J, Alfaro, Javier, Chu, Kenneth C, Viale, Agnes, Fusco, Nicola, da Cruz Paula, Arnaud, Marchio, Caterina, Sakr, Rita A, Lim, Raymond, Thompson, Lester D R, Chiosea, Simion I, Seethala, Raja R, Skalova, Alena, Stelow, Edward B, Fonseca, Isabel, Assaad, Adel, How, Christine, Wang, Jianxin, de Borja, Richard, Chan-Seng-Yue, Michelle, Howlett, Christopher J, Nichols, Anthony C, Wen, Y Hannah, Katabi, Nora, Buchner, Nicholas, Mullen, Laura, Kislinger, Thomas, Wouters, Bradly G, Liu, Fei-Fei, Norton, Larry, McPherson, John D, Rubin, Brian P, Clarke, Blaise A, Weigelt, Britta, Boutros, Paul C, Reis-Filho, Jorge S

“…Jorge Reis-Filho and colleagues identify recurrent mutations in PRKD1 in 73% of polymorphous low-grade adenocarcinoma, a malignant tumor of the minor salivary…”
Get full text

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling by Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

“…The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X…”
Get full text