Toward more accurate variant calling for “personal genomes”

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. (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 (Unpublished)

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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
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 Deposited: 11 Apr 2013 15:39
Last Modified: 11 Apr 2013 15:52
URI: http://repository.cshl.edu/id/eprint/28123

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