المؤلفون: Highnam, Gareth Wei An

Thesis Advisors: Animal and Poultry Sciences, Mittelman, David Alexander, Bevan, David R., Garner, Harold Ray, Franck, Christopher T.

مصطلحات موضوعية: Genomics, sequencing, genetics, optimization, bioinformatics

وصف الملف: ETD; application/pdf

الاتاحة: http://hdl.handle.net/10919/47451

المؤلفون: Quilez, Javier, Guilmatre, Audrey, Garg, Paras, Highnam, Gareth, Gymrek, Melissa, Erlich, Yaniv, Joshi, Ricky S., Mittelman, David, Sharp, Andrew J.

المساهمون: Biological Sciences, Fralin Life Sciences Institute

مصطلحات موضوعية: human genome, copy number, arabidopsis-thaliana, str variation, mutation, microsatellite, association, variability, nucleotide, population

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10919/88889; https://doi.org/10.1093/nar/gkw219; 44

الاتاحة: http://hdl.handle.net/10919/88889
https://doi.org/10.1093/nar/gkw219

المؤلفون: Highnam, Gareth, Wang, Jason J., Kusler, Dean, Zook, Justin, Vijayan, Vinaya, Leibovich, Nir, Mittelman, David

وصف الملف: application/pdf

Relation: 6275; http://hdl.handle.net/10919/87541; https://doi.org/10.1038/ncomms7275

الاتاحة: http://hdl.handle.net/10919/87541
https://doi.org/10.1038/ncomms7275

المؤلفون: Bilgin Sonay, Tugce, Carvalho, Tiago, Robinson, Mark D, Greminger, Maja P, Krützen, Michael, Comas, David, Highnam, Gareth, Mittelman, David, Sharp, Andrew, Marques-Bonet, Tomàs, Wagner, Andreas

المصدر: Bilgin Sonay, Tugce; Carvalho, Tiago; Robinson, Mark D; Greminger, Maja P; Krützen, Michael; Comas, David; Highnam, Gareth; Mittelman, David; Sharp, Andrew; Marques-Bonet, Tomàs; Wagner, Andreas (2015). Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Research, 25(11):1591-1599.

مصطلحات موضوعية: Institute of Molecular Life Sciences, Institute of Evolutionary Biology and Environmental Studies, Department of Evolutionary Anthropology, 570 Life sciences, biology

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/116474/1/2015_Bilgin_015784.full.pdf; https://www.zora.uzh.ch/id/eprint/116474/7/Genome%20Res.-2015-Bilgin%20Sonay-1591-9.pdf; info:pmid/26290536; urn:issn:1088-9051

الاتاحة: https://www.zora.uzh.ch/id/eprint/116474/
https://www.zora.uzh.ch/id/eprint/116474/1/2015_Bilgin_015784.full.pdf
https://doi.org/10.1101/gr.190868.115

المؤلفون: O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Billie Au, P.Y., Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzeti, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Abnormal Gait, Developmental Delay, Dystonia, Facial Dysmorphology, Intellectual Disability, Intergluteal Crease, Neurologic Features, Taf1, Transcription, Ginecología & otras especialidades médicas, Enfermedades genéticas en los niños, Anormalidades de los cromosomas sexuales en niños, E Box Protein, Protein, Tata Binding Protein Associated Factor, Transcription Factor, Unclassified Drug, Histone Acetyltransferase, Tata-Binding Protein Associated Factor 25 Kda, Transcription Factor Iid, Adolescent, Article, Child, Clinical Article, Clinical Assessment, Clinical Evaluation, Clinical Feature, Developmental Disorder, Down Regulation, Face Dysmorphia

وصف الملف: application/pdf

Relation: http://repository.urosario.edu.co/handle/10336/19015

الاتاحة: http://repository.urosario.edu.co/handle/10336/19015

المؤلفون: Balanovsky, Oleg, Zhabagin, Maxat, Agdzhoyan, Anastasiya, Chukhryaeva, Marina, Zaporozhchenko, Valery, Utevska, Olga, Highnam, Gareth, Sabitov, Zhaxylyk, Greenspan, Elliott, Dibirova, Khadizhat, Skhalyakho, Roza, Kuznetsova, Marina, Koshel, Sergey, Yusupov, Yuldash, Nymadawa, Pagbajabyn, Zhumadilov, Zhaxybay, Pocheshkhova, Elvira, Haber, Marc, Zalloua, Pierre A., Yepiskoposyan, Levon, Dybo, Anna, Tyler-Smith, Chris, Balanovska, Elena

مصطلحات موضوعية: Y-chromosomal haplogroup, haplogroup G1, SNP and STR Mutation Rates

Relation: Balanovsky O, Zhabagin M, Agdzhoyan A, Chukhryaeva M, Zaporozhchenko V, Utevska O, et al. (2015) Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers. PLoS ONE 10(4): e0122968. doi:10.1371/journal.pone.0122968; http://nur.nu.edu.kz/handle/123456789/1252

الاتاحة: http://nur.nu.edu.kz/handle/123456789/1252

المؤلفون: Balanovsky, Oleg, Zhabagin, Maxat, Agdzhoyan, Anastasiya, Chukhryaeva, Marina, Zaporozhchenko, Valery, Utevska, Olga, Highnam, Gareth, Sabitov, Zhaxylyk, Greenspan, Elliott, Dibirova, Khadizhat, Skhalyakho, Roza, Kuznetsova, Marina, Koshel, Sergey, Yusupov, Yuldash, Nymadawa, Pagbajabyn, Zhumadilov, Zhaxybay, Pocheshkhova, Elvira, Haber, Marc, A. Zalloua, Pierre, Yepiskoposyan, Levon, Dybo, Anna, Tyler-Smith, Chris, Balanovska, Elena

المساهمون: Caramelli, David

المصدر: PLOS ONE ; volume 10, issue 4, page e0122968 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0122968
http://dx.plos.org/10.1371/journal.pone.0122968

المؤلفون: Willems, Thomas Frederick, Gymrek, Melissa A., Highnam, Gareth, 1000 Genomes Project Consortium, Mittelman, David, Erlich, Yaniv

المساهمون: Harvard University--MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology. Computational and Systems Biology Program, Willems, Thomas Frederick, Gymrek, Melissa A.

المصدر: Cold Spring Harbor Laboratory Press

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1101/gr.177774.114; Genome Research; http://hdl.handle.net/1721.1/90965; Willems, T., M. Gymrek, G. Highnam, D. Mittelman, and Y. Erlich. “The Landscape of Human STR Variation.” Genome Research (August 18, 2014).; orcid:0000-0002-2293-7991; orcid:0000-0002-6086-3903

الاتاحة: http://hdl.handle.net/1721.1/90965

المؤلفون: Huang, Wen, Massouras, Andreas, Inoue, Yutaka, Peiffer, Jason, Ràmia, Miquel, Tarone, Aaron M., Turlapati, Lavanya, Zichner, Thomas, Zhu, Dianhui, Lyman, Richard F., Magwire, Michael M., Blankenburg, Kerstin, Carbone, Mary Anna, Chang, Kyle, Ellis, Lisa L., Fernandez, Sonia, Han, Yi, Highnam, Gareth, Hjelmen, Carl E., Jack, John R., Javaid, Mehwish, Jayaseelan, Joy, Kalra, Divya, Lee, Sandy, Lewis, Lora, Munidasa, Mala, Ongeri, Fiona, Patel, Shohba, Perales, Lora, Perez, Agapito, Pu, LingLing, Rollmann, Stephanie M., Ruth, Robert, Saada, Nehad, Warner, Crystal, Williams, Aneisa, Wu, Yuan-Qing, Yamamoto, Akihiko, Zhang, Yiqing, Zhu, Yiming, Anholt, Robert R.H., Korbel, Jan O., Mittelman, David, Muzny, Donna M., Gibbs, Richard A., Barbadilla, Antonio, Johnston, J. Spencer, Stone, Eric A., Richards, Stephen, Deplancke, Bart, Mackay, Trudy F.C.

مصطلحات موضوعية: RESOURCES

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/24/7/1193; http://dx.doi.org/10.1101/gr.171546.113

الاتاحة: http://genome.cshlp.org/cgi/content/short/24/7/1193
https://doi.org/10.1101/gr.171546.113

المؤلفون: Highnam, Gareth, Franck, Christopher T., Martin, Andy, Stephens, Calvin, Puthige, Ashwin, Mittelman, David

المساهمون: Biological Sciences, Statistics, Fralin Biomedical Research Institute, Fralin Life Sciences Institute

مصطلحات موضوعية: repeat instability, sequencing data, read alignment, disorders, mutations, evolution, format

وصف الملف: 7 pages; application/pdf

Relation: NVIDIA Foundation’s ‘Compute the Cure’ program (to D.M.). Funding for open access charge: NIH.; http://hdl.handle.net/10919/88962; https://doi.org/10.1093/nar/gks981; 41

الاتاحة: http://hdl.handle.net/10919/88962
https://doi.org/10.1093/nar/gks981

المؤلفون: Ward, R Matthew, Schmieder, Robert, Highnam, Gareth, Mittelman, David

المصدر: Systems Biomedicine ; volume 1, issue 1, page 29-34 ; ISSN 2162-8130 2162-8149

الاتاحة: http://dx.doi.org/10.4161/sysb.24470
http://www.tandfonline.com/doi/pdf/10.4161/sysb.24470

المؤلفون: Highnam, Gareth, Mittelman, David

المصدر: Genome Biology ; volume 13, issue 12, page 324 ; ISSN 1465-6906

الاتاحة: http://dx.doi.org/10.1186/gb-2012-13-12-324

المؤلفون: Quilez, Javier, Guilmatre, Audrey, Garg, Paras, Highnam, Gareth, Gymrek, Melissa, Erlich, Yaniv, Joshi, Ricky S., Mittelman, David, Sharp, Andrew J.

المساهمون: Biological Sciences, Fralin Life Sciences Institute

مصطلحات موضوعية: microsatellite, variability, copy number, education, human genome, str variation, association, population, arabidopsis-thaliana, mutation, nucleotide, health care economics and organizations

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2485::97984fd34b7ed6ca663826eb12b427f5
https://hdl.handle.net/10919/88889

المؤلفون: Biological Sciences, Fralin Life Sciences Institute, Quilez, Javier, Guilmatre, Audrey, Garg, Paras, Highnam, Gareth, Gymrek, Melissa, Erlich, Yaniv, Joshi, Ricky S., Mittelman, David, Sharp, Andrew J.

مصطلحات الفهرس: human genome, copy number, arabidopsis-thaliana, str variation, mutation, microsatellite, association, variability, nucleotide, population, Article - Refereed

URL: http://hdl.handle.net/10919/88889

المؤلفون: Sonay, Tugce Bilgin, Carvalho, Tiago, Robinson, Mark D., Greminger, Maja P., Krützen, Michael, Comas, David, Highnam, Gareth, Mittelman, David, Sharp, Andrew J., Marqués-Bonet, Tomàs, Wagner, Andreas

Relation: Sí; Annual Meeting of the Society for Molecular Biology and Evolution (2015); http://hdl.handle.net/10261/152701

الاتاحة: http://hdl.handle.net/10261/152701

المؤلفون: O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Jimenez Barron, Laura, Swensen, Jeffrey J., Fang, Han, Mittelman, David, Highnam, Gareth, Robison, Reid J., Yang, Edward, Wang, Kai, Lyon, Gholson

مصطلحات موضوعية: congenital hereditary genetic diseases, mental retardation, next generation sequencing, whole genome sequencing

Relation: O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Jimenez Barron, Laura, Swensen, Jeffrey J., Fang, Han, Mittelman, David, Highnam, Gareth, Robison, Reid J., Yang, Edward, Wang, Kai, Lyon, Gholson (2015) A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. bioRxiv. (Unpublished)

الاتاحة: http://repository.cshl.edu/id/eprint/31980/
http://biorxiv.org/content/early/2015/01/21/014050

المؤلفون: Highnam, Gareth, Wang, Jason J., Kusler, Dean, Zook, Justin, Vijayan, Vinaya, Leibovich, Nir, Mittelman, David

مصطلحات الفهرس: Article - Refereed

URL: http://hdl.handle.net/10919/87541

المؤلفون: Swiss National Science Foundation, University of Zurich, European Research Council, Institución Catalana de Investigación y Estudios Avanzados, EMBO, Ministerio de Ciencia e Innovación (España), National Institutes of Health (US), March of Dimes Foundation, Sonay, Tugce Bilgin, Carvalho, Tiago, Robinson, Mark D., Greminger, Maja P., Krützen, Michael, Comas, David, Highnam, Gareth, Mittelman, David, Sharp, Andrew J., Marqués-Bonet, Tomàs, Wagner, Andreas

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/152700
http://doi.org/10.1101/gr.190868.115
Publisher's version
http://doi.org/10.1101/gr.190868.115
Sí
info:eu-repo/grantAgreement/EC/FP7/260372
info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/BFU2014-55090-P

المؤلفون: Harvard University--MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology. Computational and Systems Biology Program, Willems, Thomas Frederick, Gymrek, Melissa A., Highnam, Gareth, 1000 Genomes Project Consortium, Mittelman, David, Erlich, Yaniv

المصدر: Cold Spring Harbor Laboratory Press

مصطلحات الفهرس: Article, http://purl.org/eprint/type/JournalArticle

URL: http://hdl.handle.net/1721.1/90965
https://orcid.org/0000-0002-2293-7991
https://orcid.org/0000-0002-6086-3903
http://dx.doi.org/10.1101/gr.177774.114
Genome Research

المؤلفون: Highnam, Gareth, Franck, Christopher T., Martin, Andy, Stephens, Calvin, Puthige, Ashwin, Mittelman, David

مصطلحات الفهرس: repeat instability, sequencing data, read alignment, disorders, mutations, evolution, format, Article - Refereed

URL: http://hdl.handle.net/10919/88962