Search Results - "MERRIMAN, Barry"

Progress in Ion Torrent semiconductor chip based sequencing by Merriman, Barry, R&D Team, Ion Torrent, Rothberg, Jonathan M.

“…In order for next‐generation sequencing to become widely used as a diagnostic in the healthcare industry, sequencing instrumentation will need to be mass…”
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BFAST: an alignment tool for large scale genome resequencing by Homer, Nils, Merriman, Barry, Nelson, Stanley F

“…The new generation of massively parallel DNA sequencers, combined with the challenge of whole human genome resequencing, result in the need for rapid and…”
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Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning by Cokus, Shawn J, Feng, Suhua, Zhang, Xiaoyu, Chen, Zugen, Merriman, Barry, Haudenschild,Christian D, Pradhan, Sriharsa, Nelson, Stanley F, Pellegrini, Matteo, Jacobsen, Steven E

“…Cytosine DNA methylation is important in regulating gene expression and in silencing transposons and other repetitive sequences. Recent genomic studies in…”
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Simple computation of reaction–diffusion processes on point clouds by Macdonald, Colin B., Merriman, Barry, Ruuth, Steven J.

“…The study of reaction–diffusion processes is much more complicated on general curved surfaces than on standard Cartesian coordinate spaces. Here we show how to…”
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U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line by Clark, Michael James, Homer, Nils, O'Connor, Brian D, Chen, Zugen, Eskin, Ascia, Lee, Hane, Merriman, Barry, Nelson, Stanley F

“…U87MG is a commonly studied grade IV glioma cell line that has been analyzed in at least 1,700 publications over four decades. In order to comprehensively…”
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Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia by Walsh, Tom, McClellan, Jon M., McCarthy, Shane E., Addington, Anjené M., Pierce, Sarah B., Cooper, Greg M., Nord, Alex S., Kusenda, Mary, Malhotra, Dheeraj, Bhandari, Abhishek, Stray, Sunday M., Rippey, Caitlin F., Roccanova, Patricia, Makarov, Vlad, Lakshmi, B., Findling, Robert L., Sikich, Linmarie, Stromberg, Thomas, Merriman, Barry, Gogtay, Nitin, Butler, Philip, Eckstrand, Kristen, Noory, Laila, Gochman, Peter, Long, Robert, Chen, Zugen, Davis, Sean, Baker, Carl, Eichler, Evan E., Meltzer, Paul S., Nelson, Stanley F., Singleton, Andrew B., Lee, Ming K., Rapoport, Judith L., King, Mary-Claire, Sebat, Jonathan

“…Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants…”
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex by Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, Wagner, Eric J.

“…Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit…”
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SeqWare Query Engine: storing and searching sequence data in the cloud by O'Connor, Brian D, Merriman, Barry, Nelson, Stanley F

“…Since the introduction of next-generation DNA sequencers the rapid increase in sequencer throughput, and associated drop in costs, has resulted in more than a…”
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium by Lee, Ji Eun, Silhavy, Jennifer L, Zaki, Maha S, Schroth, Jana, Bielas, Stephanie L, Marsh, Sarah E, Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M, Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V, Glass, Ian A, Cluckey, Andrew, Louie, Carrie M, Lee, Jeong Ho, Raynes, Hilary R, Rapin, Isabelle, Castroviejo, Ignacio P, Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F, Hildebrandt, Friedhelm, Johnson, Colin A, Doherty, Daniel A, Valente, Enza Maria, Gleeson, Joseph G

“…Joseph Gleeson and colleagues identify CEP41 mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of…”
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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 by Goudie, David R, D'Alessandro, Mariella, Merriman, Barry, Lee, Hane, Szeverényi, Ildikó, Avery, Stuart, O'Connor, Brian D, Nelson, Stanley F, Coats, Stephanie E, Stewart, Arlene, Christie, Lesley, Pichert, Gabriella, Friedel, Jean, Hayes, Ian, Burrows, Nigel, Whittaker, Sean, Gerdes, Anne-Marie, Broesby-Olsen, Sigurd, Ferguson-Smith, Malcolm A, Verma, Chandra, Lunny, Declan P, Reversade, Bruno, Lane, E Birgitte

“…Birgitte Lane and colleagues show that Ferguson-Smith disease, an autosomal dominant skin cancer condition characterized by the development of multiple…”
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia by Prenen, Jean, Owsianik, Grzegorz, Voets, Thomas, Funari, Tara L, Nelson, Stanley F, Lachman, Ralph S, Merriman, Barry, Reyno, Soraya, Vaglio, Alicia, Cohn, Daniel H, Funari, Vincent A, Rock, Matthew J, Rimoin, David L, Nilius, Bernd, Nagai, Toshiro, Janssens, Annelies, Wilcox, William R, Quadrelli, Roberto, Ikegawa, Shiro

“…The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short…”
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A Non-oscillatory Eulerian Approach to Interfaces in Multimaterial Flows (the Ghost Fluid Method) by Fedkiw, Ronald P, Aslam, Tariq, Merriman, Barry, Osher, Stanley

“…While Eulerian schemes work well for most gas flows, they have been shown to admit nonphysical oscillations near some material interfaces. In contrast,…”
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Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling by Tian, Jing, Ling, Ling, Shboul, Mohammad, Lee, Hane, O'Connor, Brian, Merriman, Barry, Nelson, Stanley F., Cool, Simon, Ababneh, Osama H., Al-Hadidy, Azmy, Masri, Amira, Hamamy, Hanan, Reversade, Bruno

“…We delineated a syndromic recessive preaxial brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput…”
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Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome by Merrill, Amy E., Merriman, Barry, Farrington-Rock, Claire, Camacho, Natalia, Sebald, Eiman T., Funari, Vincent A., Schibler, Matthew J., Firestein, Marc H., Cohn, Zachary A., Priore, Mary Ann, Thompson, Alicia K., Rimoin, David L., Nelson, Stanley F., Cohn, Daniel H., Krakow, Deborah

“…The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities…”
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Mortality in Patients Hospitalized for Asthma Exacerbations in the United States by Krishnan, Vidya, Diette, Gregory B, Rand, Cynthia S, Bilderback, Andrew L, Merriman, Barry, Hansel, Nadia N, Krishnan, Jerry A

“…Hospitalizations for asthma exacerbations are common in the United States, but there are no national estimates of outcomes in this population. It is also not…”
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Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 by Bonnard, Carine, Strobl, Anna C, Shboul, Mohammad, Lee, Hane, Merriman, Barry, Nelson, Stanley F, Ababneh, Osama H, Uz, Elif, Güran, Tülay, Kayserili, Hülya, Hamamy, Hanan, Reversade, Bruno

“…Bruno Reversade and colleagues show that mutations in IRX5 cause a recessive congenital disorder affecting the development of multiple organs. In follow-up…”
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Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line by Clark, Michael James, Homer, Nils, O'Connor, Brian D, Chen, Zugen, Eskin, Ascia, Lee, Hane, Merriman, Barry, Nelson, Stanley F

“…[This corrects the article DOI: 10.1371/journal.pgen.1000832.]…”
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Local alignment of two-base encoded DNA sequence by Homer, Nils, Merriman, Barry, Nelson, Stanley F

“…DNA sequence comparison is based on optimal local alignment of two sequences using a similarity score. However, some new DNA sequencing technologies do not…”
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Molecular dynamics of extreme mass segregation in a rapidly collapsing bubble by Bass, Alexander, Ruuth, Steven J, Camara, Carlos, Merriman, Barry, Putterman, Seth

“…A molecular dynamic simulation of a mixture of light and heavy gases in a rapidly imploding sphere exhibits virtually complete segregation. The lighter gas…”
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Distinct transcription profiles of primary and secondary glioblastoma subgroups by TSO, Cho-Lea, FREIJE, William A, LIAU, Linda M, CLOUGHESY, Timothy F, NELSON, Stanley F, DAY, Allen, ZUGEN CHEN, MERRIMAN, Barry, PERLINA, Ally, LEE, Yohan, DIA, Ederlyn Q, YOSHIRNOTO, Koji, MISCHEL, Paul S

“…Glioblastomas are invasive and aggressive tumors of the brain, generally considered to arise from glial cells. A subset of these cancers develops from…”
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