Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts
The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best levera...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2014-03-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00051/full |
| _version_ | 1818193073905074176 |
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| author | John J Connolly Joseph T Glessner Joseph T Glessner Berta eAlmoguera David R Crosslin Gail P Jarvik Patrick eSleiman Patrick eSleiman Hakon eHakonarson Hakon eHakonarson |
| author_facet | John J Connolly Joseph T Glessner Joseph T Glessner Berta eAlmoguera David R Crosslin Gail P Jarvik Patrick eSleiman Patrick eSleiman Hakon eHakonarson Hakon eHakonarson |
| author_sort | John J Connolly |
| collection | DOAJ |
| description | The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history. |
| first_indexed | 2024-12-12T00:40:36Z |
| format | Article |
| id | doaj.art-f686a7bc1df84596bcb69792480812b8 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-12T00:40:36Z |
| publishDate | 2014-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-f686a7bc1df84596bcb69792480812b82022-12-22T00:44:15ZengFrontiers Media S.A.Frontiers in Genetics1664-80212014-03-01510.3389/fgene.2014.0005178683Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium EffortsJohn J Connolly0Joseph T Glessner1Joseph T Glessner2Berta eAlmoguera3David R Crosslin4Gail P Jarvik5Patrick eSleiman6Patrick eSleiman7Hakon eHakonarson8Hakon eHakonarson9Children's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaUniversity of Pennsylvania Perelman School of MedicineChildren's Hospital of PhiladelphiaUniversity of Washington Medical CenterUniversity of Washington Medical CenterChildren's Hospital of PhiladelphiaUniversity of Pennsylvania Perelman School of MedicineChildren's Hospital of PhiladelphiaUniversity of Pennsylvania Perelman School of MedicineThe goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history.http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00051/fullreviewCNVstructural variationcopy numbereMERGE |
| spellingShingle | John J Connolly Joseph T Glessner Joseph T Glessner Berta eAlmoguera David R Crosslin Gail P Jarvik Patrick eSleiman Patrick eSleiman Hakon eHakonarson Hakon eHakonarson Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts Frontiers in Genetics review CNV structural variation copy number eMERGE |
| title | Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts |
| title_full | Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts |
| title_fullStr | Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts |
| title_full_unstemmed | Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts |
| title_short | Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts |
| title_sort | copy number variation analysis in the context of electronic medical records amp large scale genomics consortium efforts |
| topic | review CNV structural variation copy number eMERGE |
| url | http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00051/full |
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