Search Results - "Karczewski, J."

The ExAC browser: displaying reference data information from over 60 000 exomes by Karczewski, Konrad J, Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M, Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E, Cummings, Beryl B, Birnbaum, Daniel, Daly, Mark J, MacArthur, Daniel G

“…Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information…”
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Annotation of functional variation in personal genomes using RegulomeDB by Boyle, Alan P, Hong, Eurie L, Hariharan, Manoj, Cheng, Yong, Schaub, Marc A, Kasowski, Maya, Karczewski, Konrad J, Park, Julie, Hitz, Benjamin C, Weng, Shuai, Cherry, J Michael, Snyder, Michael

“…As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for individual variation responsible for…”
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Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power by Atkinson, Elizabeth G., Maihofer, Adam X., Kanai, Masahiro, Martin, Alicia R., Karczewski, Konrad J., Santoro, Marcos L., Ulirsch, Jacob C., Kamatani, Yoichiro, Okada, Yukinori, Finucane, Hilary K., Koenen, Karestan C., Nievergelt, Caroline M., Daly, Mark J., Neale, Benjamin M.

“…Admixed populations are routinely excluded from genomic studies due to concerns over population structure. Here, we present a statistical framework and…”
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples by Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J

“…Mark Daly and colleagues use population reference samples to refine the role of de novo protein-truncating variants in neurodevelopmental disorders. They show…”
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Performance comparison of exome DNA sequencing technologies by Snyder, Michael, Clark, Michael J, Chen, Rui, Lam, Hugo Y K, Karczewski, Konrad J, Chen, Rong, Euskirchen, Ghia, Butte, Atul J

“…Capturing and sequencing only the coding regions of the human genome leverages resources in the pursuit of rare disease-causing mutations. Clark et al …”
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High temperature corrosion evaluation and lifetime prediction of porous Fe22Cr stainless steel in air in temperature range 700–900 °C by Koszelow, D., Makowska, M., Marone, F., Karczewski, J., Jasiński, P., Molin, S.

“…[Display omitted] •The specific surface area of porous alloys was determined by X-ray microscopy.•Porous alloys were oxidized at isothermal conditions at…”
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The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes by Montgomery, Stephen B, Goode, David L, Kvikstad, Erika, Albers, Cornelis A, Zhang, Zhengdong D, Mu, Xinmeng Jasmine, Ananda, Guruprasad, Howie, Bryan, Karczewski, Konrad J, Smith, Kevin S, Anaya, Vanessa, Richardson, Rhea, Davis, Joe, MacArthur, Daniel G, Sidow, Arend, Duret, Laurent, Gerstein, Mark, Makova, Kateryna D, Marchini, Jonathan, McVean, Gil, Lunter, Gerton

“…Short insertions and deletions (indels) are the second most abundant form of human genetic variation, but our understanding of their origins and functional…”
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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes by Ruderfer, Douglas M, Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J, Kavanagh, David, Samocha, Kaitlin E, Daly, Mark J, MacArthur, Daniel G, Fromer, Menachem, Purcell, Shaun M

“…Douglas Ruderfer, Shaun Purcell and colleagues characterized the rates and properties of rare genic copy number variants in exome sequencing data from nearly…”
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Polygenic architecture of rare coding variation across 394,783 exomes by Weiner, Daniel J., Nadig, Ajay, Jagadeesh, Karthik A., Dey, Kushal K., Neale, Benjamin M., Robinson, Elise B., Karczewski, Konrad J., O’Connor, Luke J.

“…Both common and rare genetic variants influence complex traits and common diseases. Genome-wide association studies have identified thousands of common-variant…”
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Morphology changes in Fe-Cr porous alloys upon high-temperature oxidation quantified by X-ray tomographic microscopy by Koszelow, D., Molin, S., Karczewski, J., Marone, F., Makowska, M.

“…[Display omitted] •A high-temperature oxidation at 850 °C (10 h, 30 h, 100 h) and 900 °C (10 h) of porous ferritic stainless steel Fe22Cr was performed and…”
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Bioinformatics challenges for personalized medicine by Fernald, Guy Haskin, Capriotti, Emidio, Daneshjou, Roxana, Karczewski, Konrad J., Altman, Russ B.

“…Motivation: Widespread availability of low-cost, full genome sequencing will introduce new challenges for bioinformatics. Results: This review outlines recent…”
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Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes by Chen, Rui, Mias, George I., Li-Pook-Than, Jennifer, Jiang, Lihua, Lam, Hugo Y.K., Chen, Rong, Miriami, Elana, Karczewski, Konrad J., Hariharan, Manoj, Dewey, Frederick E., Cheng, Yong, Clark, Michael J., Im, Hogune, Habegger, Lukas, Balasubramanian, Suganthi, O'Huallachain, Maeve, Dudley, Joel T., Hillenmeyer, Sara, Haraksingh, Rajini, Sharon, Donald, Euskirchen, Ghia, Lacroute, Phil, Bettinger, Keith, Boyle, Alan P., Kasowski, Maya, Grubert, Fabian, Seki, Scott, Garcia, Marco, Whirl-Carrillo, Michelle, Gallardo, Mercedes, Blasco, Maria A., Greenberg, Peter L., Snyder, Phyllis, Klein, Teri E., Altman, Russ B., Butte, Atul J., Ashley, Euan A., Gerstein, Mark, Nadeau, Kari C., Tang, Hua, Snyder, Michael

“…Personalized medicine is expected to benefit from combining genomic information with regular monitoring of physiological states by multiple high-throughput…”
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CGO as a barrier layer between LSCF electrodes and YSZ electrolyte fabricated by spray pyrolysis for solid oxide fuel cells by Szymczewska, D., Karczewski, J., Chrzan, A., Jasinski, P.

“…Perovskite La0.6Sr0.4Co0.2Fe0.8O3−δ (LSCF) is often used as a cathode material for solid oxide fuel cells (SOFC) due to high mixed ionic and electronic…”
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Extensive genetic variation in somatic human tissues by O'Huallachain, Maeve, Karczewski, Konrad J., Weissman, Sherman M., Urban, Alexander Eckehart, Snyder, Michael P.

“…Genetic variation between individuals has been extensively investigated, but differences between tissues within individuals are far less understood. It is…”
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Variation in Transcription Factor Binding among Humans by Kasowski, Maya, Grubert, Fabian, Heffelfinger, Christopher, Hariharan, Manoj, Asabere, Akwasi, Waszak, Sebastian M., Habegger, Lukas, Rozowsky, Joel, Shi, Minyi, Urban, Alexander E., Hong, Mi-Young, Karczewski, Konrad J., Huber, Wolfgang, Weissman, Sherman M., Gerstein, Mark B., Korbel, Jan O., Snyder, Michael

“…Differences in gene expression may play a major role in speciation and phenotypic diversity. We examined genome-wide differences in transcription factor (TF)…”
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Electrochemical properties of porous Sr0.86Ti0.65Fe0.35O3 oxygen electrodes in solid oxide cells: Impedance study of symmetrical electrodes by Mroziński, A., Molin, S., Karczewski, J., Miruszewski, T., Jasiński, P.

“…This work evaluates porous Sr0.86Ti0.65Fe0.35O3 (STF35) as a possible oxygen electrode material for Solid Oxide Cells. The powder synthesis was performed by…”
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The evolutionary impact of childhood cancer on the human gene pool by Stoltze, Ulrik Kristoffer, Foss-Skiftesvik, Jon, Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, Konrad J., Wadt, Karin A. W., Schmiegelow, Kjeld

“…Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline…”
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Low-strain sensor based on the flexible boron-doped diamond-polymer structures by Rycewicz, M., Ficek, M., Gajewski, K., Kunuku, S., Karczewski, J., Gotszalk, T., Wlasny, I., Wysmołek, A., Bogdanowicz, R.

“…A free-standing high boron-doped diamond nanosheet (BDDNS) has been fabricated for the development of a flexible BDDNS strain senor. High boron-doped diamond…”
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Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine by Salari, Keyan, Karczewski, Konrad J, Hudgins, Louanne, Ormond, Kelly E

“…An emerging debate in academic medical centers is not about the need for providing trainees with fundamental education on genomics, but rather the most…”
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Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing by Boland, Mary Regina, Karczewski, Konrad J, Tatonetti, Nicholas P

“…Mary Regina Boland * E-mail: mary.boland@columbia.edu Affiliations Department of Biomedical Informatics, Columbia University, New York, New York, United States…”
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