ArticleEuropean journal of human genetics : EJHG2017
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 159 papers, 22 of them syntheses that pooled it.
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Who cites it
159 citing papers in PubMed, 22 syntheses or guidelines pooled it.
- Discovering Age- and Sex-Specific Genetic Risk Factors in Sensorineural Hearing Loss: Genome-Wide Evidence from Large-Scale Biobanks.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Pooled it
- Genetic architecture of lumbar spinal stenosis.Nature communications · 2026Pooled it
- Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting.Nature genetics · 2026Pooled it
- The genetic basis of dermatophytosis skin infection susceptibility.Nature communications · 2026Pooled it
- A genome-wide association study of buccal mucosa cancer in India and multi-ancestry meta-analysis discovers risk loci and gene-environment interactions.EBioMedicine · 2025Pooled it
- Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.Nature communications · 2025Pooled it
- Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations.Nature communications · 2024Pooled it
- Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage.Nature genetics · 2024Pooled it
- GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.Communications biology · 2024Pooled it
- Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy.Human reproduction (Oxford, England) · 2023Pooled it
- The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.Nature genetics · 2023Pooled it
- Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nature communications · 2023Pooled it
- Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes.Human molecular genetics · 2022Pooled it
- Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.Communications biology · 2022Pooled it
- Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.Nature communications · 2022Pooled it
- Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.Nature genetics · 2022Pooled it
- Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.Human reproduction (Oxford, England) · 2022Pooled it
- False positive findings during genome-wide association studies with imputation: influence of allele frequency and imputation accuracy.Human molecular genetics · 2021Pooled it
- Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.Nature communications · 2021Pooled it
99 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors.
Funding
Abstract
Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible imputation reference panels accurately predict genotypes for common variants with minor allele frequency (MAF)≥5% and low-frequency variants (0.5≤MAF<5%) across diverse populations, but the imputation of rare variation (MAF<0.5%) is still rather limited. In the current study, we evaluate imputation accuracy achieved with reference panels from diverse populations with a population-specific high-coverage (30 ×) whole-genome sequencing (WGS) based reference panel, comprising of 2244 Estonian individuals (0.25% of adult Estonians). Although the Estonian-specific panel contains fewer haplotypes and variants, the imputation confidence and accuracy of imputed low-frequency and rare variants was significantly higher. The results indicate the utility of population-specific reference panels for human genetic studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.