Search Results - "Reid, Jeffrey G."

Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology by English, Adam C, Richards, Stephen, Han, Yi, Wang, Min, Vee, Vanesa, Qu, Jiaxin, Qin, Xiang, Muzny, Donna M, Reid, Jeffrey G, Worley, Kim C, Gibbs, Richard A

“…Many genomes have been sequenced to high-quality draft status using Sanger capillary electrophoresis and/or newer short-read sequence data and whole genome…”
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Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease by Dewey, Frederick E, Gusarova, Viktoria, O’Dushlaine, Colm, Gottesman, Omri, Trejos, Jesus, Hunt, Charleen, Van Hout, Cristopher V, Habegger, Lukas, Buckler, David, Lai, Ka-Man V, Leader, Joseph B, Murray, Michael F, Ritchie, Marylyn D, Kirchner, H. Lester, Ledbetter, David H, Penn, John, Lopez, Alexander, Borecki, Ingrid B, Overton, John D, Reid, Jeffrey G, Carey, David J, Murphy, Andrew J, Yancopoulos, George D, Baras, Aris, Gromada, Jesper, Shuldiner, Alan R

“…This study showed an association of loss-of-function mutations in ANGPTL4 with low triglyceride levels and protection against coronary artery disease…”
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Genetic identification of familial hypercholesterolemia within a single U.S. health care system by Abul-Husn, Noura S., Manickam, Kandamurugu, Jones, Laney K., Wright, Eric A., Hartzel, Dustin N., Gonzaga-Jauregui, Claudia, O'Dushlaine, Colm, Leader, Joseph B., Kirchner, H. Lester, Lindbuchler, D'Andra M., Barr, Marci L., Giovanni, Monica A., Ritchie, Marylyn D., Overton, John D., Reid, Jeffrey G., Metpally, Raghu P. R., Wardeh, Amr H., Borecki, Ingrid B., Yancopoulos, George D., Baras, Aris, Shuldiner, Alan R., Gottesman, Omri, Ledbetter, David H., Carey, David J., Dewey, Frederick E., Murray, Michael F.

“…Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of…”
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PBHoney: identifying genomic variants via long-read discordance and interrupted mapping by English, Adam C, Salerno, William J, Reid, Jeffrey G

“…As resequencing projects become more prevalent across a larger number of species, accurate variant identification will further elucidate the nature of genetic…”
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Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population by Martin, Christa Lese, Wain, Karen E, Oetjens, Matthew T, Tolwinski, Kasia, Palen, Emily, Hare-Harris, Abby, Habegger, Lukas, Maxwell, Evan K, Reid, Jeffrey G, Walsh, Lauren Kasparson, Myers, Scott M, Ledbetter, David H

“…Population screening for medically relevant genomic variants that cause diseases such as hereditary cancer and cardiovascular disorders is increasing to…”
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Next-generation sequencing identifies rare variants associated with Noonan syndrome by Chen, Peng-Chieh, Yin, Jiani, Yu, Hui-Wen, Yuan, Tao, Fernande, Minerva, Yung, Christina K., Trinh, Quang M., Peltekova, Vanya D., Reid, Jeffrey G., Tworog-Dube, Erica, Morgan, Margaret B., Muzny, Donna M., Stein, Lincoln, McPherson, John D., Roberts, Amy E., Gibbs, Richard A., Neel, Benjamin G., Kucherlapati, Raju

“…Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities…”
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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders by Lim, Elaine T., Raychaudhuri, Soumya, Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, MacArthur, Daniel G., Neale, Benjamin M., Kirby, Andrew, Ruderfer, Douglas M., Fromer, Menachem, Lek, Monkol, Liu, Li, Flannick, Jason, Ripke, Stephan, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Hawes, Alicia, Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Dinh, Huyen, Gross, Shannon, Wang, Li-San, Lin, Chiao-Feng, Valladares, Otto, Gabriel, Stacey B., dePristo, Mark, Altshuler, David M., Purcell, Shaun M., State, Matthew W., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Daly, Mark J.

“…To characterize the role of rare complete human knockouts in autism spectrum disorders (ASDs), we identify genes with homozygous or compound heterozygous…”
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Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease by Horowitz, Julie E., Warner, Neil, Staples, Jeffrey, Crowley, Eileen, Gosalia, Nehal, Murchie, Ryan, Van Hout, Cristopher, Fiedler, Karoline, Welch, Gabriel, King, Alejandra Klauer, Reid, Jeffrey G., Overton, John D., Baras, Aris, Shuldiner, Alan R., Griffiths, Anne, Gottesman, Omri, Muise, Aleixo M., Gonzaga-Jauregui, Claudia

“…Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of…”
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Whole-genome sequencing for optimized patient management by Bainbridge, Matthew N, Wiszniewski, Wojciech, Murdock, David R, Friedman, Jennifer, Gonzaga-Jauregui, Claudia, Newsham, Irene, Reid, Jeffrey G, Fink, John K, Morgan, Margaret B, Gingras, Marie-Claude, Muzny, Donna M, Hoang, Linh D, Yousaf, Shahed, Lupski, James R, Gibbs, Richard A

“…Whole-genome sequencing of patient DNA can facilitate diagnosis of a disease, but its potential for guiding treatment has been under-realized. We interrogated…”
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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease by Zhu, Na, Welch, Carrie L, Wang, Jiayao, Allen, Philip M, Gonzaga-Jauregui, Claudia, Ma, Lijiang, King, Alejandra K, Krishnan, Usha, Rosenzweig, Erika B, Ivy, D Dunbar, Austin, Eric D, Hamid, Rizwan, Pauciulo, Michael W, Lutz, Katie A, Nichols, William C, Reid, Jeffrey G, Overton, John D, Baras, Aris, Dewey, Frederick E, Shen, Yufeng, Chung, Wendy K

“…Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive pulmonary…”
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Assessing structural variation in a personal genome-towards a human reference diploid genome by English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A

“…Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and…”
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A Link between mir-100 and FRAP1/mTOR in Clear Cell Ovarian Cancer by Nagaraja, Ankur K, Creighton, Chad J, Yu, Zhifeng, Zhu, Huifeng, Gunaratne, Preethi H, Reid, Jeffrey G, Olokpa, Emuejevoke, Itamochi, Hiroaki, Ueno, Naoto T, Hawkins, Shannon M, Anderson, Matthew L, Matzuk, Martin M

“…MicroRNAs (miRNAs) are small noncoding RNAs that direct gene regulation through translational repression and degradation of complementary mRNA. Although miRNAs…”
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Genomic diagnostics within a medically underserved population: efficacy and implications by Strauss, Kevin A., Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Williams, Katie B., King, Alejandra K., Van Hout, Cristopher, Robinson, Donna L., Young, Millie, Praveen, Kavita, Heaps, Adam D., Kuebler, Mindy, Baras, Aris, Reid, Jeffrey G., Overton, John D., Dewey, Frederick E., Jinks, Robert N., Finnegan, Ian, Mellis, Scott J., Shuldiner, Alan R., Puffenberger, Erik G.

“…We integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian…”
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders by YAPING YANG, MUZNY, Donna M, HARDISON, Matthew, PERSON, Richard, MIR REZA BEKHEIRNIA, LEDUC, Magalie S, KIRBY, Amelia, PHAM, Peter, SCULL, Jennifer, MIN WANG, YAN DING, PLON, Sharon E, REID, Jeffrey G, LUPSKI, James R, BEAUDET, Arthur L, GIBBS, Richard A, ENG, Christine M, BAINBRIDGE, Matthew N, WILLIS, Alecia, WARD, Patricia A, BRAXTON, Alicia, BEUTEN, Joke, FAN XIA, NIU, Zhiyv

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Discovery of novel microRNAs in female reproductive tract using next generation sequencing by Creighton, Chad J, Benham, Ashley L, Zhu, Huifeng, Khan, Mahjabeen F, Reid, Jeffrey G, Nagaraja, Ankur K, Fountain, Michael D, Dziadek, Olivia, Han, Derek, Ma, Lang, Kim, Jong, Hawkins, Shannon M, Anderson, Matthew L, Matzuk, Martin M, Gunaratne, Preethi H

“…MicroRNAs (miRNAs) are small non-coding RNAs that mediate post-transcriptional gene silencing. Over 700 human miRNAs have currently been identified, many of…”
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls by Liu, Li, Sabo, Aniko, Neale, Benjamin M, Nagaswamy, Uma, Stevens, Christine, Lim, Elaine, Bodea, Corneliu A, Muzny, Donna, Reid, Jeffrey G, Banks, Eric, Coon, Hillary, Depristo, Mark, Dinh, Huyen, Fennel, Tim, Flannick, Jason, Gabriel, Stacey, Garimella, Kiran, Gross, Shannon, Hawes, Alicia, Lewis, Lora, Makarov, Vladimir, Maguire, Jared, Newsham, Irene, Poplin, Ryan, Ripke, Stephan, Shakir, Khalid, Samocha, Kaitlin E, Wu, Yuanqing, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Jr, Edwin H, Devlin, Bernie, Schellenberg, Gerard D, Sutcliffe, James S, Daly, Mark J, Gibbs, Richard A, Roeder, Kathryn

“…We report on results from whole-exome sequencing (WES) of 1,039 subjects diagnosed with autism spectrum disorders (ASD) and 870 controls selected from the NIMH…”
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Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta) by Fawcett, Gloria L, Raveendran, Muthuswamy, Deiros, David Rio, Chen, David, Yu, Fuli, Harris, Ronald Alan, Ren, Yanru, Muzny, Donna M, Reid, Jeffrey G, Wheeler, David A, Worley, Kimberly C, Shelton, Steven E, Kalin, Ned H, Milosavljevic, Aleksandar, Gibbs, Richard, Rogers, Jeffrey

“…Rhesus macaques are the most widely utilized nonhuman primate model in biomedical research. Previous efforts have validated fewer than 900 single nucleotide…”
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Computational and transcriptional evidence for microRNAs in the honey bee genome by Weaver, Daniel B, Anzola, Juan M, Evans, Jay D, Reid, Jeffrey G, Reese, Justin T, Childs, Kevin L, Zdobnov, Evgeny M, Samanta, Manoj P, Miller, Jonathan, Elsik, Christine G

“…BACKGROUND: Non-coding microRNAs (miRNAs) are key regulators of gene expression in eukaryotes. Insect miRNAs help regulate the levels of proteins involved with…”
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Exome sequencing and analysis of 454,787 UK Biobank participants by Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

“…A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here…”
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank by Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris

“…The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around…”
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