Browse by CSHL Author

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. (December 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 (December 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. (October 2015) Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Molecular Case Studies, 1 (1).

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

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. (January 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. (January 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)

O'Rawe, Jason, Lyon, Gholson J. (November 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. (October 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)

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. (August 2014) Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nature Methods, 11 (10). pp. 1033-1036.

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

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

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 (Unpublished)

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (August 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. (August 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. (August 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. (August 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. (August 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. (August 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. (August 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. (August 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. (August 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. (August 2013) Supplemental file 9 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. (May 2013) Supplemental figure 3 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (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. (May 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, 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. (March 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)

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. (March 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. (March 2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (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) 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]

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