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NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants

Genome medicine, 2019-10, Vol.11 (1), p.64-64, Article 64 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;The Author(s). 2019 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-019-0677-z ;PMID: 31640730

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Title:
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
Author: Yoo, Seong-Keun ; Kim, Chang-Uk ; Kim, Hie Lim ; Kim, Sungjae ; Shin, Jong-Yeon ; Kim, Namcheol ; Yang, Joshua Sung Woo ; Lo, Kwok-Wai ; Cho, Belong ; Matsuda, Fumihiko ; Schuster, Stephan C ; Kim, Changhoon ; Kim, Jong-Il ; Seo, Jeong-Sun
Subjects: Asian Continental Ancestry Group - genetics ; Asians ; Base sequence ; Biodiversity ; DNA sequencing ; East Asians ; Gene Frequency ; Genetic aspects ; Genetic research ; Genetic variation ; Genetics, Population ; Genome, Human ; Genome-Wide Association Study ; Genomes ; Genomics ; Genotype ; Genotype imputation ; Genotypes ; Humans ; Methods ; Multiple imputation (Statistics) ; Northeast Asians ; Nucleotide sequence ; Polymorphism, Single Nucleotide ; Reference panel ; Reference Standards ; Whole Genome Sequencing - methods ; Whole Genome Sequencing - standards ; Whole-genome sequencing
Is Part Of: Genome medicine, 2019-10, Vol.11 (1), p.64-64, Article 64
Description: Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phase 3 (1KGP3). We combined and re-phased the genotypes from NARD and 1KGP3 to construct a union set of haplotypes. This approach established a robust imputation reference panel for Northeast Asians, which yields the greatest imputation accuracy of rare and low-frequency variants compared with the existing panels. NARD imputation panel is available at https://nard.macrogen.com/ .
Publisher: England: BioMed Central Ltd
Language: English
Identifier: ISSN: 1756-994X
EISSN: 1756-994X
DOI: 10.1186/s13073-019-0677-z
PMID: 31640730
Source: Open Access: DOAJ Directory of Open Access Journals
Open Access: PubMed Central
Geneva Foundation Free Medical Journals at publisher websites
AUTh Library subscriptions: ProQuest Central
MEDLINE
Springer OA刊

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NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;The Author(s). 2019 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-019-0677-z ;PMID: 31640730

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