O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Harkonarson, Hakon, Johnson, W. Evan, Robison, Reid J., Wei, Zhi, Wang, Kai, Lyon, Gholson J. (March 2013) Toward more accurate variant calling for “personal genomes”. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)
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Variant calling poster American College of Medical Genetics March 2013.pdf - Presentation Available under License Creative Commons Attribution. Download (1MB) | Preview |
Abstract
To date, researchers and clinicians use widely different methods for detecting and reporting human genetic variation. As the size of academic and private databases grow and as the use of the existing genomic techniques expand, researchers and clinicians stand to greatly benefit from the standardization of data generating approaches and analysis methodologies. To successfully implement genomic analyses in the clinic, it will be critically important to optimize the existing pipelines for attaining a higher sensitivity and specificity for more accurate and consistent variant calling.
| Item Type: | Conference or Workshop Item (Poster) |
|---|---|
| Subjects: | bioinformatics bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes Publication Type > Meeting Abstract bioinformatics > genomics and proteomics > personal genomes bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes |
| CSHL Authors: | |
| Communities: | CSHL labs > Lyon lab |
| Depositing User: | Matt Covey |
| Date: | March 2013 |
| Date Deposited: | 11 Apr 2013 15:39 |
| Last Modified: | 21 Feb 2018 17:24 |
| URI: | https://repository.cshl.edu/id/eprint/28123 |
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