المؤلفون: Yann Marcy, Thomas Ishoey, Roger S Lasken, Timothy B Stockwell, Brian P Walenz, Aaron L Halpern, Karen Y Beeson, Susanne M D Goldberg, Stephen R Quake

المصدر: PLoS Genetics, Vol 3, Iss 9, Pp 1702-1708 (2007)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC1988849?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/ce990fa9085b40668963ba2a386c66d6

المؤلفون: Shannon J Williamson, Douglas B Rusch, Shibu Yooseph, Aaron L Halpern, Karla B Heidelberg, John I Glass, Cynthia Andrews-Pfannkoch, Douglas Fadrosh, Christopher S Miller, Granger Sutton, Marvin Frazier, J Craig Venter

المصدر: PLoS ONE, Vol 3, Iss 1, p e1456 (2008)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18213365/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4c4384918bda451fb554ccf8199f9595

المؤلفون: Samuel Levy, Granger Sutton, Pauline C Ng, Lars Feuk, Aaron L Halpern, Brian P Walenz, Nelson Axelrod, Jiaqi Huang, Ewen F Kirkness, Gennady Denisov, Yuan Lin, Jeffrey R MacDonald, Andy Wing Chun Pang, Mary Shago, Timothy B Stockwell, Alexia Tsiamouri, Vineet Bafna, Vikas Bansal, Saul A Kravitz, Dana A Busam, Karen Y Beeson, Tina C McIntosh, Karin A Remington, Josep F Abril, John Gill, Jon Borman, Yu-Hui Rogers, Marvin E Frazier, Stephen W Scherer, Robert L Strausberg, J Craig Venter

المصدر: PLoS Biology, Vol 5, Iss 10, p e254 (2007)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/1ebc1b9d3b354a3c848c72f1b19274b6

المؤلفون: Byrappa Venkatesh, Ewen F Kirkness, Yong-Hwee Loh, Aaron L Halpern, Alison P Lee, Justin Johnson, Nidhi Dandona, Lakshmi D Viswanathan, Alice Tay, J Craig Venter, Robert L Strausberg, Sydney Brenner

المصدر: PLoS Biology, Vol 5, Iss 4, p e101 (2007)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/6ef1c6c4672c49d0939ad48a860c47d7

المؤلفون: Shibu Yooseph, Granger Sutton, Douglas B Rusch, Aaron L Halpern, Shannon J Williamson, Karin Remington, Jonathan A Eisen, Karla B Heidelberg, Gerard Manning, Weizhong Li, Lukasz Jaroszewski, Piotr Cieplak, Christopher S Miller, Huiying Li, Susan T Mashiyama, Marcin P Joachimiak, Christopher van Belle, John-Marc Chandonia, David A Soergel, Yufeng Zhai, Kannan Natarajan, Shaun Lee, Benjamin J Raphael, Vineet Bafna, Robert Friedman, Steven E Brenner, Adam Godzik, David Eisenberg, Jack E Dixon, Susan S Taylor, Robert L Strausberg, Marvin Frazier, J Craig Venter

المصدر: PLoS Biology, Vol 5, Iss 3, p e16 (2007)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/d3c8becc5a9947e1bccad4901b6de6ec

المؤلفون: Douglas B Rusch, Aaron L Halpern, Granger Sutton, Karla B Heidelberg, Shannon Williamson, Shibu Yooseph, Dongying Wu, Jonathan A Eisen, Jeff M Hoffman, Karin Remington, Karen Beeson, Bao Tran, Hamilton Smith, Holly Baden-Tillson, Clare Stewart, Joyce Thorpe, Jason Freeman, Cynthia Andrews-Pfannkoch, Joseph E Venter, Kelvin Li, Saul Kravitz, John F Heidelberg, Terry Utterback, Yu-Hui Rogers, Luisa I Falcón, Valeria Souza, Germán Bonilla-Rosso, Luis E Eguiarte, David M Karl, Shubha Sathyendranath, Trevor Platt, Eldredge Bermingham, Victor Gallardo, Giselle Tamayo-Castillo, Michael R Ferrari, Robert L Strausberg, Kenneth Nealson, Robert Friedman, Marvin Frazier, J Craig Venter

المصدر: PLoS Biology, Vol 5, Iss 3, p e77 (2007)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/9f2e61d2d00c4b9badbafd6d934e9891

المؤلفون: Andrea Gaedigk, Erin C. Boone, Steven E. Scherer, Seung-been Lee, Ibrahim Numanagić, Cenk Sahinalp, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Xiang Qin, Wendy Y. Wang, Emily G. Farrow, Nina Gonzaludo, Aaron L. Halpern, Deborah A. Nickerson, Neil A. Miller, Victoria M. Pratt, Lisa V. Kalman

المصدر: The Journal of Molecular Diagnostics. 24:337-350

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6c297ae96d21d698c0ce01e6a9dfad3f
https://doi.org/10.1016/j.jmoldx.2021.12.011

المؤلفون: Zoya Kingsbury, Andrew J. Connell, Ryan J. Taft, Alba Sanchis-Juan, Courtney E. French, Matthew E.R. Butchbach, David R. Bentley, Aditi Chawla, Xiao Chen, Isabelle Delon, Michael A. Eberle, Aaron L. Halpern, F Lucy Raymond, Nihr BioResource

المصدر: Genetics in Medicine
Chen, X, Sanchis-juan, A, French, C E, Connell, A J, Delon, I, Kingsbury, Z, Chawla, A, Halpern, A L, Taft, R J, Bentley, D R, Bioresource, NIHR, Williamson, C, Butchbach, M E R, Raymond, F L, Eberle, M A & Dixon, P 2020, ' Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data ', GENETICS IN MEDICINE, vol. 22, no. 5, pp. 945-953 . https://doi.org/10.1038/s41436-020-0754-0

مصطلحات موضوعية: 0301 basic medicine, spinal muscular atrophy (SMA), medicine.medical_specialty, Copy number analysis, Genomics, carrier screening, SMN1, Computational biology, 030105 genetics & heredity, Biology, Genome, DNA sequencing, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, genome sequencing (GS), Spinal muscular atrophy, bioinformatics, SMA, medicine.disease, Survival of Motor Neuron 1 Protein, nervous system diseases, 030104 developmental biology, copy-number analysis, Child, Preschool, Medical genetics, 030217 neurology & neurosurgery, Reference genome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e691a1b29fc20874442d996b2129dc58
http://europepmc.org/articles/PMC7200598

المؤلفون: Aaron L. Halpern

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2df129919207558e84d27c49a56b9dfc
https://doi.org/10.1002/9781405166348.ch5

المؤلفون: Peter Krusche, Doruk Beyter, Christopher T. Saunders, Konrad Scheffler, Aaron L. Halpern, Xiaoyu Chen, Morten Källberg, Sangtae Kim, Mitchell A. Bekritsky, Eunho Noh, Yeonbin Kim

المصدر: Nature methods. 15(8)

مصطلحات موضوعية: 0301 basic medicine, Computer science, Somatic cell, Computational biology, Biochemistry, Germline, 03 medical and health sciences, Germline mutation, INDEL Mutation, Neoplasms, Databases, Genetic, Humans, Molecular Biology, Germ-Line Mutation, Liquid Tumor, Models, Genetic, Whole Genome Sequencing, Genetic Variation, High-Throughput Nucleotide Sequencing, Cell Biology, 030104 developmental biology, Haplotypes, Genome informatics, Sample contamination, Software, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19967d9ed8d455e2f23b3c783e7c1db3
https://pubmed.ncbi.nlm.nih.gov/30013048