المؤلفون: Lyon, Gholson J.

مصطلحات موضوعية: genetics & nucleic acid processing, genomics and proteomics, Investigative techniques and equipment, assays, genomes, whole exome sequencing, whole genome sequencing

وصف الملف: application/pdf

العلاقة: http://repository.cshl.edu/id/eprint/28357/1/NGStranslateWorkshopLyon%20May2013.pdfTest; Lyon, Gholson J. (May 2013) Exome and Genome Sequencing. [Teaching Resource] (Unpublished)

الإتاحة: http://repository.cshl.edu/id/eprint/28357Test/
http://repository.cshl.edu/id/eprint/28357/1/NGStranslateWorkshopLyon%20May2013.pdfTest

المؤلفون: Tsiplova, Kate, Zur, Richard M., Ungar, Wendy J.

مصطلحات موضوعية: chromosomal microarray analysis, CMA, whole exome sequencing, WES, whole genome sequencing, WGS, autism spectrum disorder, diagnostic yields, cost-consequence analysis, TASK, Hospital for Sick Children, Technology Assessment at SickKids, provincial, Sick Kids, Dalla Lana School of Public Health

العلاقة: http://hdl.handle.net/1807/80094Test

الإتاحة: http://hdl.handle.net/1807/80094Test

المؤلفون: 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.

مصطلحات موضوعية: bioinformatics, whole exome sequencing, whole genome sequencing, demo, edu

العلاقة: http://repository.cshl.edu/id/eprint/31168Test/

الإتاحة: http://repository.cshl.edu/id/eprint/31168Test/

المؤلفون: 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.

مصطلحات موضوعية: bioinformatics, whole exome sequencing, whole genome sequencing

العلاقة: 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

الإتاحة: https://doi.org/10.1136/jmedgenet-2014-102907Test
http://repository.cshl.edu/id/eprint/31168Test/
http://www.ncbi.nlm.nih.gov/pubmed/25587064Test

المؤلفون: Fang, Han, Wu, Yiyang, Narzisi, G., O'Rawe, Jason, Jimenez Barron, Laura, Rosenbaum, J., Ronemus, M., Iossifov, I., Schatz, M. C., Lyon, Gholson J.

مصطلحات موضوعية: bioinformatics, genomics and proteomics, computational biology, whole exome sequencing, whole genome sequencing

وصف الملف: application/pdf

العلاقة: http://repository.cshl.edu/id/eprint/31120/1/Lyon%20And%20Schatz%20and%20Iossifov%20Genome%20Medicine%202014.pdfTest; 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.

الإتاحة: https://doi.org/10.1186/s13073-014-0089-zTest
http://repository.cshl.edu/id/eprint/31120Test/
http://repository.cshl.edu/id/eprint/31120/1/Lyon%20And%20Schatz%20and%20Iossifov%20Genome%20Medicine%202014.pdfTest
http://www.ncbi.nlm.nih.gov/pubmed/25426171Test

المؤلفون: Thomson, P. A., Parla, J. S., McRae, A. F., Kramer, M., Ramakrishnan, K., Yao, J., Soares, D. C., McCarthy, S., Morris, S. W., Cardone, L., Cass, S., Ghiban, E., Hennah, W., Evans, K. L., Rebolini, D., Millar, J. K., Harris, S. E., Starr, J. M., MacIntyre, D. J., McIntosh, A. M., Watson, J. D., Deary, I. J., Visscher, P. M., Blackwood, D. H., McCombie, W. R., Porteous, D. J.

مصطلحات موضوعية: schizophrenia, gene expression, next generation sequencing, single nucleotide polymorphism, whole exome sequencing, whole genome sequencing

العلاقة: Thomson, P. A., Parla, J. S., McRae, A. F., Kramer, M., Ramakrishnan, K., Yao, J., Soares, D. C., McCarthy, S., Morris, S. W., Cardone, L., Cass, S., Ghiban, E., Hennah, W., Evans, K. L., Rebolini, D., Millar, J. K., Harris, S. E., Starr, J. M., MacIntyre, D. J., McIntosh, A. M., Watson, J. D., Deary, I. J., Visscher, P. M., Blackwood, D. H., McCombie, W. R., Porteous, D. J. (June 2014) 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: Analysis for association with psychiatric disorder and cognitive traits. Molecular Psychiatry, 19 (6). pp. 668-675. ISSN 14765578

الإتاحة: https://doi.org/10.1038/mp.2013.68Test
http://repository.cshl.edu/id/eprint/30303Test/
http://www.ncbi.nlm.nih.gov/pubmed/23732877Test

المؤلفون: 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.

مصطلحات موضوعية: bioinformatics, genetics & nucleic acid processing, genomics and proteomics, genomes, whole exome sequencing, whole genome sequencing

وصف الملف: application/pdf

العلاقة: http://repository.cshl.edu/id/eprint/28338/1/Lyon%20Genome%20Medicine%202013.pdfTest; 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)

الإتاحة: https://doi.org/10.1186/gm432Test
http://repository.cshl.edu/id/eprint/28338Test/
http://repository.cshl.edu/id/eprint/28338/1/Lyon%20Genome%20Medicine%202013.pdfTest
http://www.ncbi.nlm.nih.gov/pubmed/23537139Test