Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2018-04-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-018-03910-9 |
| _version_ | 1818835013099061248 |
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| author | Christopher DeBoever Yosuke Tanigawa Malene E. Lindholm Greg McInnes Adam Lavertu Erik Ingelsson Chris Chang Euan A. Ashley Carlos D. Bustamante Mark J. Daly Manuel A. Rivas |
| author_facet | Christopher DeBoever Yosuke Tanigawa Malene E. Lindholm Greg McInnes Adam Lavertu Erik Ingelsson Chris Chang Euan A. Ashley Carlos D. Bustamante Mark J. Daly Manuel A. Rivas |
| author_sort | Christopher DeBoever |
| collection | DOAJ |
| description | Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions. |
| first_indexed | 2024-12-19T02:43:57Z |
| format | Article |
| id | doaj.art-4ce5ec51846e458aa6a36cea259e640a |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-19T02:43:57Z |
| publishDate | 2018-04-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-4ce5ec51846e458aa6a36cea259e640a2022-12-21T20:39:00ZengNature PortfolioNature Communications2041-17232018-04-019111010.1038/s41467-018-03910-9Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank studyChristopher DeBoever0Yosuke Tanigawa1Malene E. Lindholm2Greg McInnes3Adam Lavertu4Erik Ingelsson5Chris Chang6Euan A. Ashley7Carlos D. Bustamante8Mark J. Daly9Manuel A. Rivas10Department of Biomedical Data Science, Stanford UniversityDepartment of Biomedical Data Science, Stanford UniversityGrail, Inc.Department of Biomedical Data Science, Stanford UniversityDepartment of Biomedical Data Science, Stanford UniversityDivision of Cardiovascular Medicine, Department of Medicine, Stanford University School of MedicineGrail, Inc.Department of Medicine, School of Medicine, Stanford UniversityDepartment of Biomedical Data Science, Stanford UniversityAnalytical and Translational Genetics UnitDepartment of Biomedical Data Science, Stanford UniversityProtein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.https://doi.org/10.1038/s41467-018-03910-9 |
| spellingShingle | Christopher DeBoever Yosuke Tanigawa Malene E. Lindholm Greg McInnes Adam Lavertu Erik Ingelsson Chris Chang Euan A. Ashley Carlos D. Bustamante Mark J. Daly Manuel A. Rivas Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study Nature Communications |
| title | Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study |
| title_full | Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study |
| title_fullStr | Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study |
| title_full_unstemmed | Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study |
| title_short | Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study |
| title_sort | medical relevance of protein truncating variants across 337 205 individuals in the uk biobank study |
| url | https://doi.org/10.1038/s41467-018-03910-9 |
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