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https://doi.org/10.1...arrow_drop_down
https://doi.org/10.1109/kse.20...
Article . 2015 . Peer-reviewed
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Conference object . 2019
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Conference object . 2016
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Building Population-Specific Reference Genomes: A Case Study of Vietnamese Reference Genome

A Case Study of Vietnamese Reference Genome
Authors: Nguyen Dai Thanh; Pham Thi Minh Trang; Dang Thanh Hai; Nguyen Ha Anh Tuan; Si Quang Le; Bui Quang Minh; Quang Minh Dao; +2 Authors

Building Population-Specific Reference Genomes: A Case Study of Vietnamese Reference Genome

Abstract

The human reference genome is an essential tool for studying human genomes. The standard reference genome is constructed from genomes of a few donors. The 1000 genomes project has revealed a huge amount of genetic differences between diverse populations. It is therefore naturally questioned whether the standard reference genome can work well for all human genome studies or population-specific reference genomes are needed accordingly. In this paper, we present a pipeline for constructing and evaluating a population-specific reference genome. The pipeline was examined on building the Vietnamese reference genome from 100 Kinh Vietnamese genomes obtained from the 1000 genomes project. Experiments showed that the resulting Vietnamese reference genome was better than the standard reference genome at analyzing Vietnamese genomic data. It helped improve the quality of short reads mapping and genotype calling for Vietnamese genomes. The pipeline is applicable for building and evaluating other population-specific reference genomes. For the first time the Vietnamese reference genome, which is now available for further Vietnamese genome studies, was successfully built.

Country
Austria
Keywords

human reference genome, 106014 Genomics, 106005 Bioinformatik, Vietnamese reference genome, 106014 Genomik, population-specific reference genome, 106005 Bioinformatics

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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average
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