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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
Material Type: Article
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Genetic Variation, Comparative Genomics, and the Diagnosis of DiseaseThe New England journal of medicine, 2019-07, Vol.381 (1), p.64-74 [Peer Reviewed Journal]Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1809315 ;PMID: 31269367Full text available |
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Limitations of next-generation genome sequence assemblyNature methods, 2011-01, Vol.8 (1), p.61-65 [Peer Reviewed Journal]COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2011 ;2011 Nature America, Inc. All rights reserved. 2011 ;ISSN: 1548-7091 ;EISSN: 1548-7105 ;DOI: 10.1038/nmeth.1527 ;PMID: 21102452Full text available |
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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 triosCell, 2022-09, Vol.185 (18), p.3426-3440.e19 [Peer Reviewed Journal]Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved. ;2022 The Authors 2022 ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2022.08.004 ;PMID: 36055201Full text available |
| 4 |
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Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing dataNature methods, 2013-06, Vol.10 (6), p.563-569 [Peer Reviewed Journal]COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2013 ;ISSN: 1548-7091 ;EISSN: 1548-7105 ;DOI: 10.1038/nmeth.2474 ;PMID: 23644548Full text available |
| 5 |
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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long readsGenome research, 2020-09, Vol.30 (9), p.1291-1305 [Peer Reviewed Journal]2020 Nurk et al.; Published by Cold Spring Harbor Laboratory Press. ;Copyright Cold Spring Harbor Laboratory Press Sep 2020 ;2020 ;ISSN: 1088-9051 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.263566.120 ;PMID: 32801147Full text available |
| 6 |
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The discovery of integrated gene networks for autism and related disordersGenome research, 2015-01, Vol.25 (1), p.142-154 [Peer Reviewed Journal]2015 Hormozdiari et al.; Published by Cold Spring Harbor Laboratory Press. ;2015 ;ISSN: 1088-9051 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.178855.114 ;PMID: 25378250Full text available |
| 7 |
Material Type: Article
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Genetic variation and the de novo assembly of human genomesNature reviews. Genetics, 2015-11, Vol.16 (11), p.627-640 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2015 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg3933 ;PMID: 26442640Full text available |
| 8 |
Material Type: Article
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Prioritization of neurodevelopmental disease genes by discovery of new mutationsNature neuroscience, 2014-06, Vol.17 (6), p.764-772 [Peer Reviewed Journal]COPYRIGHT 2014 Nature Publishing Group ;COPYRIGHT 2014 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2014 ;ISSN: 1097-6256 ;EISSN: 1546-1726 ;DOI: 10.1038/nn.3703 ;PMID: 24866042 ;CODEN: NANEFNFull text available |
| 9 |
Material Type: Article
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An Incomplete Understanding of Human Genetic VariationGenetics (Austin), 2016-04, Vol.202 (4), p.1251-1254 [Peer Reviewed Journal]Copyright © 2016 by the Genetics Society of America. ;Copyright Genetics Society of America Apr 2016 ;Copyright © 2016 by the Genetics Society of America 2016 ;ISSN: 1943-2631 ;ISSN: 0016-6731 ;EISSN: 1943-2631 ;DOI: 10.1534/genetics.115.180539 ;PMID: 27053122 ;CODEN: GENTAEFull text available |
| 10 |
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A Genotype-First Approach to Defining the Subtypes of a Complex DiseaseCell, 2014-02, Vol.156 (5), p.872-877 [Peer Reviewed Journal]2014 Elsevier Inc. ;Copyright © 2014 Elsevier Inc. All rights reserved. ;2014 Elsevier Inc. 2014 ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2014.02.002 ;PMID: 24581488Full text available |
| 11 |
Material Type: Article
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Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphsNature communications, 2021-07, Vol.12 (1), p.4250-4250, Article 4250 [Peer Reviewed Journal]2021. The Author(s). ;The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-021-24378-0 ;PMID: 34253730Full text available |
| 12 |
Material Type: Article
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental DisordersAmerican journal of human genetics, 2014-03, Vol.94 (3), p.415-425 [Peer Reviewed Journal]2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 6, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.02.001 ;PMID: 24581740Full text available |
| 13 |
Material Type: Article
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Excess of rare, inherited truncating mutations in autismNature genetics, 2015-06, Vol.47 (6), p.582-588 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2015 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3303 ;PMID: 25961944Full text available |
| 14 |
Material Type: Article
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental DuplicationCell, 2012-05, Vol.149 (4), p.912-922 [Peer Reviewed Journal]2012 Elsevier Inc. ;Copyright © 2012 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2012.03.033 ;PMID: 22559943Full text available |
| 15 |
Material Type: Article
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Resolving the complexity of the human genome using single-molecule sequencingNature (London), 2015-01, Vol.517 (7536), p.608-611 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Jan 29, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature13907 ;PMID: 25383537 ;CODEN: NATUASFull text available |
| 16 |
Material Type: Article
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Genomic Patterns of De Novo Mutation in Simplex AutismCell, 2017-10, Vol.171 (3), p.710-722.e12 [Peer Reviewed Journal]2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2017.08.047 ;PMID: 28965761Full text available |
| 17 |
Material Type: Article
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Copy number variation detection and genotyping from exome sequence dataGenome research, 2012-08, Vol.22 (8), p.1525-1532 [Peer Reviewed Journal]2012 ;ISSN: 1088-9051 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.138115.112 ;PMID: 22585873Full text available |
| 18 |
Material Type: Article
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Missing heritability and strategies for finding the underlying causes of complex diseaseNature reviews. Genetics, 2010-06, Vol.11 (6), p.446-450 [Peer Reviewed Journal]COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2010 ;2010 Macmillan Publishers Limited. All rights reserved 2010 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2809 ;PMID: 20479774Full text available |
| 19 |
Material Type: Article
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Discovery and genotyping of structural variation from long-read haploid genome sequence dataGenome research, 2017-05, Vol.27 (5), p.677-685 [Peer Reviewed Journal]2017 Huddleston et al.; Published by Cold Spring Harbor Laboratory Press. ;2017 ;ISSN: 1088-9051 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.214007.116 ;PMID: 27895111Full text available |
| 20 |
Material Type: Article
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Establishing Cerebral Organoids as Models of Human-Specific Brain EvolutionCell, 2019-02, Vol.176 (4), p.743-756.e17 [Peer Reviewed Journal]2019 Elsevier Inc. ;Copyright © 2019 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.01.017 ;PMID: 30735633Full text available |
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