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.
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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