Coverage of Exon-Targeted Sequencing. Freytag, S., Sohns, M., & Bickeböller, H. In Hemmelmann, C., Ahnert, P., Foraita, R., Großhennig, A., Scherag, A., & Biebler, K., editors, Biometrische Aspekte der Genomanalyse 4. Next generation sequencing data analysis, pages 91–97, 2011. Shaker.
Coverage of Exon-Targeted Sequencing [link]Paper  abstract   bibtex   
In 2008 with the start of the 1000 Genome Project, researchers hoped that the resulting data would inform epidemiological studies about low-frequency variants and linkage disequilibrium structures. Using the recent exon-targeted release of the 1000 Genome Project we calculated its cov-erage in order to assess the benefits of the incorporation of such data in ordinary genome-wide association studies. Due to its low coverage and problems of linkage disequilibrium measures with low frequency variants, we advise against using these data to impute further variants.
@inproceedings{Freytag2011Coverage,
 abstract = {In 2008 with the start of the 1000 Genome Project, researchers hoped that the resulting data would inform epidemiological studies about low-frequency variants and linkage disequilibrium structures. Using the recent exon-targeted release of the 1000 Genome Project we calculated its cov-erage in order to assess the benefits of the incorporation of such data in ordinary genome-wide association studies. Due to its low coverage and problems of linkage disequilibrium measures with low frequency variants, we advise against using these data to impute further variants.},
 author = {Freytag, Saskia and Sohns, Melanie and Bickeb{\"o}ller, Heike},
 title = {Coverage of Exon-Targeted Sequencing},
 url = {http://www.worldcat.org/isbn/9783844001556},
 keywords = {gen;phd},
 pages = {91--97},
 publisher = {Shaker},
 isbn = {9783844001556},
 editor = {Hemmelmann, Claudia and Ahnert, Peter and Foraita, Ronja and Gro{\ss}hennig, Anika and Scherag, Andr{\'e} and Biebler, Karl-Ernst},
 booktitle = {Biometrische Aspekte der Genomanalyse 4. {N}ext generation sequencing data analysis},
 year = {2011}
}

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