Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects
نویسندگان
چکیده
منابع مشابه
In silico blood genotyping from exome sequencing data
Background: Over the last decade, we have witnessed an incredible growth in the field of exome and genome sequencing. This information can be used to predict phenotypes for a number of traits of medical relevance. Here, we have focused on the identification of blood cell traits, developing BOOGIE, a tool recognizing relevant mutations through genome analysis and interpreting them in several blo...
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MOTIVATION Population low-coverage whole-genome sequencing is rapidly emerging as a prominent approach for discovering genomic variation and genotyping a cohort. This approach combines substantially lower cost than full-coverage sequencing with whole-genome discovery of low-allele frequency variants, to an extent that is not possible with array genotyping or exome sequencing. However, a challen...
متن کاملComparing whole genome sequencing and exome sequencing
Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...
متن کاملAn estimate of large-scale sequencing accuracy.
The accuracy of large-scale DNA sequencing is difficult to estimate without redundant effort. We have found that the mobile genetic element IS10, a component of the transposon Tn10, has contaminated a significant number of clones in the public databases, as a result of the use of the transposon in bacterial cloning strain construction. These contaminations need to be annotated as such. More pos...
متن کاملA Simple Sampling Method for Estimating the Accuracy of Large Scale Record Linkage Projects.
BACKGROUND Record linkage techniques allow different data collections to be brought together to provide a wider picture of the health status of individuals. Ensuring high linkage quality is important to guarantee the quality and integrity of research. Current methods for measuring linkage quality typically focus on precision (the proportion of incorrect links), given the difficulty of measuring...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2013
ISSN: 1756-994X
DOI: 10.1186/gm473