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

SK Yoo, CU Kim, HL Kim, S Kim, JY Shin, N Kim… - Genome medicine, 2019 - Springer
Here, we present the Northeast Asian Reference Database (NARD), including whole-
genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and …

Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population

MY Hwang, NH Choi, HH Won, BJ Kim, YJ Kim - Frontiers in Genetics, 2022 - frontiersin.org
Genotype imputation is essential for enhancing the power of association-mapping and
discovering rare and indels that are missed by most genotyping arrays. Imputation analysis …

Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical …

J Yasuda, F Katsuoka, I Danjoh, Y Kawai, K Kojima… - BMC genomics, 2018 - Springer
Background Genotype imputation from single-nucleotide polymorphism (SNP) genotype
data using a haplotype reference panel consisting of thousands of unrelated individuals …

The ChinaMAP reference panel for the accurate genotype imputation in Chinese populations

L Li, P Huang, X Sun, S Wang, M Xu, S Liu, Z Feng… - Cell Research, 2021 - nature.com
Dear Editor, The genotype imputation is an efficient and pivotal approach to estimate the
unobserved genotypes in the genomic data from the single nucleotide polymorphism (SNP) …

A combined reference panel from the 1000 Genomes and UK10K projects improved rare variant imputation in European and Chinese samples

WC Chou, HF Zheng, CH Cheng, H Yan, L Wang… - Scientific reports, 2016 - nature.com
Imputation using the 1000 Genomes haplotype reference panel has been widely adapted to
estimate genotypes in genome wide association studies. To evaluate imputation quality with …

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

T Lencz, J Yu, C Palmer, S Carmi, D Ben-Avraham… - Human Genetics, 2018 - Springer
While increasingly large reference panels for genome-wide imputation have been recently
made available, the degree to which imputation accuracy can be enhanced by population …

NyuWa Genome resource: a deep whole-genome sequencing-based variation profile and reference panel for the Chinese population

P Zhang, H Luo, Y Li, Y Wang, J Wang, Y Zheng, Y Niu… - Cell reports, 2021 - cell.com
The lack of haplotype reference panels and whole-genome sequencing resources specific
to the Chinese population has greatly hindered genetic studies in the world's largest …

Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

Y Kawai, T Mimori, K Kojima, N Nariai… - Journal of human …, 2015 - nature.com
Abstract The Tohoku Medical Megabank Organization constructed the reference panel
(referred to as the 1KJPN panel), which contains> 20 million single nucleotide …

A high-resolution haplotype-resolved Reference panel constructed from the China Kadoorie Biobank Study

C Yu, X Lan, Y Tao, Y Guo, D Sun, P Qian… - Nucleic Acids …, 2023 - academic.oup.com
Precision medicine depends on high-accuracy individual-level genotype data. However, the
whole-genome sequencing (WGS) is still not suitable for gigantic studies due to budget …

Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference

Y Lin, L Liu, S Yang, Y Li, D Lin, X Zhang, X Yin - Human Genetics, 2018 - Springer
Genotype imputation is now routinely performed in genomic analysis. Reference panel size,
that is, the number of haplotypes in the reference panel, has been well established to be one …