دورية أكاديمية
GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing
| العنوان: | GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing |
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| المؤلفون: | Mathur, Ravi, Fang, Fang, Gaddis, Nathan, Hancock, Dana B, Cho, Michael H, Hokanson, John E, Bierut, Laura J, Lutz, Sharon M, Young, Kendra, Smith, Albert V, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Silverman, Edwin K, Page, Grier P, Johnson, Eric O |
| المصدر: | 2020-Current year OA Pubs |
| بيانات النشر: | Digital Commons@Becker |
| سنة النشر: | 2022 |
| المجموعة: | Washington University School of Medicine: Digital Commons@Becker |
| مصطلحات موضوعية: | Genome-Wide Association Study, Genotype, Phenotype, Sample Size, Whole Genome Sequencing, Medicine and Health Sciences |
| الوصف: | Genome-wide association studies (GWAS) have made impactful discoveries for complex diseases, often by amassing very large sample sizes. Yet, GWAS of many diseases remain underpowered, especially for non-European ancestries. One cost-effective approach to increase sample size is to combine existing cohorts, which may have limited sample size or be case-only, with public controls, but this approach is limited by the need for a large overlap in variants across genotyping arrays and the scarcity of non-European controls. We developed and validated a protocol, Genotyping Array-WGS Merge (GAWMerge), for combining genotypes from arrays and whole-genome sequencing, ensuring complete variant overlap, and allowing for diverse samples like Trans-Omics for Precision Medicine to be used. Our protocol involves phasing, imputation, and filtering. We illustrated its ability to control technology driven artifacts and type-I error, as well as recover known disease-associated signals across technologies, independent datasets, and ancestries in smoking-related cohorts. GAWMerge enables genetic studies to leverage existing cohorts to validly increase sample size and enhance discovery for understudied traits and ancestries. |
| نوع الوثيقة: | text |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | https://digitalcommons.wustl.edu/oa_4/156Test; https://digitalcommons.wustl.edu/context/oa_4/article/1157/viewcontent/s42003_022_03738_6.pdfTest; https://digitalcommons.wustl.edu/context/oa_4/article/1157/filename/0/type/additional/viewcontent/42003_2022_3738_MOESM1_ESM.pdfTest; https://digitalcommons.wustl.edu/context/oa_4/article/1157/filename/1/type/additional/viewcontent/42003_2022_3738_MOESM2_ESM.pdfTest; https://digitalcommons.wustl.edu/context/oa_4/article/1157/filename/2/type/additional/viewcontent/42003_2022_3738_MOESM3_ESM.pdfTest |
| DOI: | 10.1038/s42003-022-03738-6 |
| الإتاحة: | https://doi.org/10.1038/s42003-022-03738-6Test https://digitalcommons.wustl.edu/oa_4/156Test https://digitalcommons.wustl.edu/context/oa_4/article/1157/viewcontent/s42003_022_03738_6.pdfTest https://digitalcommons.wustl.edu/context/oa_4/article/1157/filename/0/type/additional/viewcontent/42003_2022_3738_MOESM1_ESM.pdfTest https://digitalcommons.wustl.edu/context/oa_4/article/1157/filename/1/type/additional/viewcontent/42003_2022_3738_MOESM2_ESM.pdfTest https://digitalcommons.wustl.edu/context/oa_4/article/1157/filename/2/type/additional/viewcontent/42003_2022_3738_MOESM3_ESM.pdfTest |
| رقم الانضمام: | edsbas.1A62938C |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s42003-022-03738-6 |
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