Search Results - "Goldfeder, Rachel L"

Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis by Goldfeder, Rachel L, Wall, Dennis P, Khoury, Muin J, Ioannidis, John P A, Ashley, Euan A

“…Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health,…”
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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…”
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Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation by BONNYCASTLE, Lori L, CHINES, Peter S, NARISU, Narisu, GOLDFEDER, Rachel L, STITZEL, Michael L, SIMIN LU, BOEHNKE, Michael, URANO, Fumihiko, COLLINS, Francis S, LAAKSO, Markku, HARA, Takashi, HUYGHE, Jeroen R, SWIFT, Amy J, HEIKINHEIMO, Pirkko, MAHADEVAN, Jana, PELTONEN, Sirkku, HUOPIO, Hanna, NUUTILA, Pirjo

“…We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of…”
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Modeling Drosophila positional preferences in open field arenas with directional persistence and wall attraction by Soibam, Benjamin, Goldfeder, Rachel L, Manson-Bishop, Claire, Gamblin, Rachel, Pletcher, Scott D, Shah, Shishir, Gunaratne, Gemunu H, Roman, Gregg W

“…In open field arenas, Drosophila adults exhibit a preference for arena boundaries over internal walls and open regions. Herein, we investigate the nature of…”
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Chromatin interaction analyses elucidate the roles of PRC2-bound silencers in mouse development by Ngan, Chew Yee, Wong, Chee Hong, Tjong, Harianto, Wang, Wenbo, Goldfeder, Rachel L., Choi, Cindy, He, Hao, Gong, Liang, Lin, Junyan, Urban, Barbara, Chow, Julianna, Li, Meihong, Lim, Joanne, Philip, Vivek, Murray, Stephen A., Wang, Haoyi, Wei, Chia-Lin

“…Lineage-specific gene expression is modulated by a balance between transcriptional activation and repression during animal development. Knowledge about…”
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Differential immune profiles distinguish the mutational subtypes of gastrointestinal stromal tumor by Vitiello, Gerardo A, Bowler, Timothy G, Liu, Mengyuan, Medina, Benjamin D, Zhang, Jennifer Q, Param, Nesteene J, Loo, Jennifer K, Goldfeder, Rachel L, Chibon, Frederic, Rossi, Ferdinand, Zeng, Shan, DeMatteo, Ronald P

“…Gastrointestinal stromal tumor (GIST) is the most common human sarcoma, frequently characterized by an oncogenic mutation in the KIT or platelet-derived growth…”
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A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data by Goldfeder, Rachel L, Parker, Stephen C J, Ajay, Subramanian S, Ozel Abaan, Hatice, Margulies, Elliott H

“…The ability to generate whole genome data is rapidly becoming commoditized. For example, a mammalian sized genome (∼3Gb) can now be sequenced using…”
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Clinical Interpretation and Implications of Whole-Genome Sequencing by Dewey, Frederick E, Grove, Megan E, Pan, Cuiping, Goldstein, Benjamin A, Bernstein, Jonathan A, Chaib, Hassan, Merker, Jason D, Goldfeder, Rachel L, Enns, Gregory M, David, Sean P, Pakdaman, Neda, Ormond, Kelly E, Caleshu, Colleen, Kingham, Kerry, Klein, Teri E, Whirl-Carrillo, Michelle, Sakamoto, Kenneth, Wheeler, Matthew T, Butte, Atul J, Ford, James M, Boxer, Linda, Ioannidis, John P. A, Yeung, Alan C, Altman, Russ B, Assimes, Themistocles L, Snyder, Michael, Ashley, Euan A, Quertermous, Thomas

“…IMPORTANCE Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of…”
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Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study by McConnell, Michael V, Shcherbina, Anna, Pavlovic, Aleksandra, Homburger, Julian R, Goldfeder, Rachel L, Waggot, Daryl, Cho, Mildred K, Rosenberger, Mary E, Haskell, William L, Myers, Jonathan, Champagne, Mary Ann, Mignot, Emmanuel, Landray, Martin, Tarassenko, Lionel, Harrington, Robert A, Yeung, Alan C, Ashley, Euan A

“…Studies have established the importance of physical activity and fitness, yet limited data exist on the associations between objective, real-world physical…”
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Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine by Harper, Andrew R, Parikh, Victoria N, Goldfeder, Rachel L, Caleshu, Colleen, Ashley, Euan A

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Reduced subgenomic RNA expression is a molecular indicator of asymptomatic SARS-CoV-2 infection by Wong, Chee Hong, Ngan, Chew Yee, Goldfeder, Rachel L., Idol, Jennifer, Kuhlberg, Chris, Maurya, Rahul, Kelly, Kevin, Omerza, Gregory, Renzette, Nicholas, De Abreu, Francine, Li, Lei, Browne, Frederick A., Liu, Edison T., Wei, Chia-Lin

“…Background It is estimated that up to 80% of infections caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are asymptomatic and…”
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Correction: Modeling Drosophila Positional Preferences in Open Field Arenas with Directional Persistence and Wall Attraction by Soibam, Benjamin, Goldfeder, Rachel L., Manson-Bishop, Claire, Gamblin, Rachel, Pletcher, Scott D., Shah, Shishir, Gunaratne, Gemunu H., Roman, Gregg W.

“…There were errors in the placement of Figures 2-6. (2012) Correction: Modeling Drosophila Positional Preferences in Open Field Arenas with Directional…”
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Mining Twitter Data to Improve Detection of Schizophrenia by McManus, Kimberly, Mallory, Emily K, Goldfeder, Rachel L, Haynes, Winston A, Tatum, Jonathan D

“…Individuals who suffer from schizophrenia comprise I percent of the United States population and are four times more likely to die of suicide than the general…”
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An Evaluation Framework for Lossy Compression of Genome Sequencing Quality Values by Alberti, Claudio, Daniels, Noah, Hernaez, Mikel, Voges, Jan, Goldfeder, Rachel L., Hernandez-Lopez, Ana A., Mattavelli, Marco, Berger, Bonnie

“…This paper provides the specification and an initial validation of an evaluation framework for the comparison of lossy compressors of genome sequencing quality…”
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Chromatin Interaction Analyses Elucidate PRC2-bound Silencers’ Roles in Mouse Development by Ngan, Chew Yee, Wong, Chee Hong, Tjong, Harianto, Wang, Wenbo, Goldfeder, Rachel L., Choi, Cindy, He, Hao, Gong, Liang, Lin, Junyan, Urban, Barbara, Chow, Julianna, Li, Meihong, Lim, Joanne, Philip, Vivek, Murray, Stephen A., Wang, Haoyi, Wei, Chia-Lin

“…In metazoan development, lineage specific gene expression is modulated by the delicate balance between transcription activation and repression. Despite much of…”
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Correction: Modeling Positional Preferences in Open Field Arenas with Directional Persistence and Wall Attraction by Benjamin Soibam, Rachel L. Goldfeder, Claire Manson-Bishop, Rachel Gamblin, Scott D. Pletcher, Shishir Shah, Gemunu H. Gunaratne, Gregg W. Roman

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