hg19KIndel: ethnicity normalized human reference genome

hg19KIndel: ethnicity normalized human reference genome

Abstract Background The most widely used human genome reference assembly hg19 harbors minor alleles at 2.18 million positions as revealed by 1000 Genome Phase 3 dataset. Although this is less than 2% of the 89 million variants reported, it has been shown that the minor alleles can result in 30% fals...

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Bibliographic Details
Main Authors: Harsh G. Shukla, Pushpinder Singh Bawa, Subhashini Srinivasan
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Genomics
Subjects:
Human reference genome
Disease predisposition
Population study
Variant calling
Major and minor alleles
Online Access:http://link.springer.com/article/10.1186/s12864-019-5854-3

Internet

http://link.springer.com/article/10.1186/s12864-019-5854-3

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