O'Rawe, Jason Publications

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | No Grouping

O'Rawe, Jason

Number of items at this level: 38.

Paper

Fang, H., Bergmann, E. A., Arora, K., Vacic, V., Zody, M. C., Iossifov, I., O'Rawe, J. A., Wu, Y., Jimenez Barron, L. T., Rosenbaum, J., Ronemus, M., Lee, Y. H., Wang, Z., Dikoglu, E., Jobanputra, V., Lyon, G. J., Wigler, M., Schatz, M. C., Narzisi, G. (2016) Indel variant analysis of short-read sequencing data with Scalpel. Nat Protoc, 11 (12). pp. 2529-2548. ISSN 1750-2799 (Electronic)1750-2799 (Linking)

O’Rawe, Jason A, Wu, Yiyang, Dörfel, Max J, Rope, Alan F, Au, P. Y.  Billie, Parboosingh, Jillian S, Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S, Tzetis, 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 (2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics, 97 (6). pp. 922-932. ISSN 0002-9297

Jiménez-Barrón, Laura T., O'Rawe, Jason A., Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J. (2015) Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Molecular Case Studies, 1 (1).

He, M., Person, T. N., Hebbring, S. J., Heinzen, E., Ye, Z., Schrodi, S. J., McPherson, E. W., Lin, S. M., Peissig, P. L., Brilliant, M. H., O'Rawe, J., Robison, R. J., Lyon, G. J., Wang, K. (2015) SeqHBase: a big data toolset for family based sequencing data analysis. Journal of Medical Genetics, 52 (4). pp. 282-288. ISSN 0022-2593

O'Rawe, J. A., Ferson, S., Lyon, G. J. (2015) Accounting for uncertainty in DNA sequencing data. Trends Genet, 31 (2). pp. 61-68. ISSN 0168-9525

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)

Narzisi, G., O'Rawe, Jason, Iossifov, I., Fang, Han, Lee, Y. H., Wang, Zihua, Wu, Yiyang, Lyon, Gholson J., Wigler, M. H., Schatz, M. C. (2014) Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nature Methods, 11 (10). pp. 1033-1036.

Fang, Han, Wu, Yiyang, Narzisi, G., O'Rawe, Jason, Jimenez Barron, Laura, Rosenbaum, J., Ronemus, M., Iossifov, I., Schatz, M. C., Lyon, Gholson J. (2014) Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med, 6 (10). p. 89.

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. PeerJ, 1. e177.

O'Rawe, J., Jiang, T., Sun, G., Wu, Y., Wang, W., Hu, J., Bodily, P., Tian, L., Hakonarson, H., Johnson, W. E., Wei, Z., Wang, K., Lyon, G. J. (2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med, 5 (3). p. 28. ISSN 1756-994X (Print)

Book Section

Lyon, Gholson J., O'Rawe, Jason (2015) Human genetics and clinical aspects of neurodevelopmental disorders. In: The Genetics of Neurodevelopmental Disorders. Wiley, pp. 289-317.

Conference or Workshop Item

O'Rawe, Jason, Lyon, Gholson J. (2014) Large pedigrees in human sequencing studies: toward a more resolved and accurate picture of genetic disease. In: Cold Spring Harbor Laboratory Personal Genomes Meeting, November 2014, Cold Spring Harbor, NY. (Unpublished)

O'Rawe, Jason, Lyon, Gholson J. (2014) Large pedigrees in human sequencing studies: toward a more resolved and accurate picture of genetic disease. In: 64th Annual Meeting of the American Society of Human Genetics (ASHG), October 2014, San Diego, California. (Unpublished)

O'Rawe, Jason, Wu, Yiyang, Mittelman, David, Fang, Han, Lyon, Gholson J. (2013) Uncovering genetic components of a previously un-described syndrome. In: Cold Spring Harbor Laboratory: Precision Medicine Meeting, November 2013, Cold Spring Harbor, New York. (Unpublished)

Fang, Han, Wu, Yiyang, O'Rawe, Jason, Mittelman, David, Lyon, Gholson J. (2013) Whole genome sequencing analysis of a family with familial dysautonomia and neuropsychiatric symptoms. In: Cold Spring Harbor Laboratory Precision Medicine Meeting, November 2013, Cold Spring Harbor, New York. (Unpublished)

O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Hakonarson, Hakon, Johnson, W. Evan, Robison, Reid J., Wei, Zhi, Wang, Kai, Lyon, Gholson J. (2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. In: The Biology of Genomes , May 2013, Cold Spring Harbor Laboratory. (Unpublished)

O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Harkonarson, Hakon, Johnson, W. Evan, Robison, Reid J., Wei, Zhi, Wang, Kai, Lyon, Gholson J. (2013) Toward more accurate variant calling for “personal genomes”. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

Lyon, Gholson J., O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Robison, Reid J., Wang, Kai, Swensen, Jeffrey J. (2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

Image

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental figure 1 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental figure 2 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental figure 4 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental figure 5 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental figure 3 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

Video

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplementary video of subject M.A for Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. PeerJ 1:e177. [Video]

Dataset

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 10 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 12 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

Lyon, Gholson J., O'Rawe, Jason, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Reese, Martin G. (2013) Supplemental file 1 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 2 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 3 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 4 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 5 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 6 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 7 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 8 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 9 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)

Other

Lyon, Gholson J., Doerfel, Max, O'Rawe, Jason, Fang, Han, Jimenez Barron, Laura (2014) Human Genetics and Genomic Medicine. Cold Spring Harbor Laboratory.

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental file 11 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". UNSPECIFIED. (Unpublished)

Lyon, Gholson J., Doerfel, Max, O'Rawe, Jason, Wu, Yiyang, Kota, Prashant (2012) Human Genetics and Genomic Medicine. Cold Spring Harbor Laboratory.

This list was generated on Mon Nov 20 19:42:37 2017 EST.
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving