A reference panel of 64,976 haplotypes for genotype imputation

Nature genetics, 2016 - nature.com
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

B Howie, C Fuchsberger, M Stephens, J Marchini… - Nature …, 2012 - nature.com
Abstract The 1000 Genomes Project and disease-specific sequencing efforts are producing
large collections of haplotypes that can be used as reference panels for genotype imputation …

Genotype imputation with thousands of genomes

B Howie, J Marchini, M Stephens - G3: Genes| Genomes …, 2011 - academic.oup.com
Genotype imputation is a statistical technique that is often used to increase the power and
resolution of genetic association studies. Imputation methods work by using haplotype …

Next-generation genotype imputation service and methods

S Das, L Forer, S Schönherr, C Sidore, AE Locke… - Nature …, 2016 - nature.com
Genotype imputation is a key component of genetic association studies, where it increases
power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is …

[HTML][HTML] Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

O Delaneau, J Marchini - Nature communications, 2014 - nature.com
A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-
wide association studies (GWAS). Here we develop a method to estimate haplotypes from …

Comprehensive assessment of genotype imputation performance

S Shi, N Yuan, M Yang, Z Du, J Wang, X Sheng, J Wu… - Human Heredity, 2019 - karger.com
Genotype imputation is a process of estimating missing ge-notypes from the haplotype or
genotype reference panel. It can effectively boost the power of detecting single nucleotide …

Rapid genotype imputation from sequence without reference panels

RW Davies, J Flint, S Myers, R Mott - Nature genetics, 2016 - nature.com
Inexpensive genotyping methods are essential for genetic studies requiring large sample
sizes. In human studies, array-based microarrays and high-density haplotype reference …

Genotype imputation from large reference panels

S Das, GR Abecasis, BL Browning - Annual review of genomics …, 2018 - annualreviews.org
Genotype imputation has become a standard tool in genome-wide association studies
because it enables researchers to inexpensively approximate whole-genome sequence …

[HTML][HTML] A one-penny imputed genome from next-generation reference panels

BL Browning, Y Zhou, SR Browning - The American Journal of Human …, 2018 - cell.com
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …

[HTML][HTML] The GenomeAsia 100K Project enables genetic discoveries across Asia

Nature, 2019 - nature.com
The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …